A Brief History of the Drug War | Drug Policy Alliance

This video from hip hop legend Jay Z and acclaimed artist Molly Crabapple depicts the drug wars devastating impact on the Black community from decades of biased law enforcement.

The video traces the drug war from President Nixon to the draconian Rockefeller Drug Laws to the emerging aboveground marijuana market that is poised to make legal millions for wealthy investors doing the same thing that generations of people of color have been arrested and locked up for. After you watch the video, read on to learn more about the discriminatory history of the war on drugs.

Many currently illegal drugs, such as marijuana, opium, coca, and psychedelics have been used for thousands of years for both medical and spiritual purposes. So why are some drugs legal and other drugs illegal today? It’s not based on any scientific assessment of the relative risks of these drugs but it has everything to do with who is associated with these drugs.

The first anti-opium laws in the 1870s were directed at Chinese immigrants. The first anti-cocaine laws in the early 1900s were directed at black men in the South. The first anti-marijuana laws, in the Midwest and the Southwest in the 1910s and 20s, were directed at Mexican migrants and Mexican Americans. Today, Latino and especially black communities are still subject to wildly disproportionate drug enforcement and sentencing practices.

In the 1960s, as drugs became symbols of youthful rebellion, social upheaval, and political dissent, the government halted scientific research to evaluate their medical safety and efficacy.

In June 1971, President Nixon declared a war on drugs. He dramatically increased the size and presence of federal drug control agencies, and pushed through measures such as mandatory sentencing and no-knock warrants.

A top Nixon aide, John Ehrlichman, later admitted: You want to know what this was really all about. The Nixon campaign in 1968, and the Nixon White House after that, had two enemies: the antiwar left and black people. You understand what Im saying. We knew we couldnt make it illegal to be either against the war or black, but by getting the public to associate the hippies with marijuana and blacks with heroin, and then criminalizing both heavily, we could disrupt those communities. We could arrest their leaders, raid their homes, break up their meetings, and vilify them night after night on the evening news. Did we know we were lying about the drugs? Of course we did.Nixon temporarily placed marijuana in Schedule One, the most restrictive category of drugs, pending review by a commission he appointed led by Republican Pennsylvania Governor Raymond Shafer.

In 1972, the commission unanimously recommended decriminalizing the possession and distribution of marijuana for personal use. Nixon ignored the report and rejected its recommendations.

Between 1973 and 1977, however, eleven states decriminalized marijuana possession. In January 1977, President Jimmy Carter was inaugurated on a campaign platform that included marijuana decriminalization. In October 1977, the Senate Judiciary Committee voted to decriminalize possession of up to an ounce of marijuana for personal use.

Within just a few years, though, the tide had shifted. Proposals to decriminalize marijuana were abandoned as parents became increasingly concerned about high rates of teen marijuana use. Marijuana was ultimately caught up in a broader cultural backlash against the perceived permissiveness of the 1970s.

The presidency of Ronald Reagan marked the start of a long period of skyrocketing rates of incarceration, largely thanks to his unprecedented expansion of the drug war. The number of people behind bars for nonviolent drug law offenses increased from 50,000 in 1980 to over 400,000 by 1997.

Public concern about illicit drug use built throughout the 1980s, largely due to media portrayals of people addicted to the smokeable form of cocaine dubbed crack. Soon after Ronald Reagan took office in 1981, his wife, Nancy Reagan, began a highly-publicized anti-drug campaign, coining the slogan “Just Say No.”

This set the stage for the zero tolerance policies implemented in the mid-to-late 1980s. Los Angeles Police Chief Daryl Gates, who believed that casual drug users should be taken out and shot, founded the DARE drug education program, which was quickly adopted nationwide despite the lack of evidence of its effectiveness. The increasingly harsh drug policies also blocked the expansion of syringe access programs and other harm reduction policies to reduce the rapid spread of HIV/AIDS.

In the late 1980s, a political hysteria about drugs led to the passage of draconian penalties in Congress and state legislatures that rapidly increased the prison population. In 1985, the proportion of Americans polled who saw drug abuse as the nation’s “number one problem” was just 2-6 percent. The figure grew through the remainder of the 1980s until, in September 1989, it reached a remarkable 64 percent one of the most intense fixations by the American public on any issue in polling history. Within less than a year, however, the figure plummeted to less than 10 percent, as the media lost interest. The draconian policies enacted during the hysteria remained, however, and continued to result in escalating levels of arrests and incarceration.

Although Bill Clinton advocated for treatment instead of incarceration during his 1992 presidential campaign, after his first few months in the White House he reverted to the drug war strategies of his Republican predecessors by continuing to escalate the drug war. Notoriously, Clinton rejected a U.S. Sentencing Commission recommendation to eliminate the disparity between crack and powder cocaine sentences.

He also rejected, with the encouragement of drug czar General Barry McCaffrey, Health Secretary Donna Shalalas advice to end the federal ban on funding for syringe access programs. Yet, a month before leaving office, Clinton asserted in a Rolling Stone interview that “we really need a re-examination of our entire policy on imprisonment” of people who use drugs, and said that marijuana use “should be decriminalized.”

At the height of the drug war hysteria in the late 1980s and early 1990s, a movement emerged seeking a new approach to drug policy. In 1987, Arnold Trebach and Kevin Zeese founded the Drug Policy Foundation describing it as the loyal opposition to the war on drugs. Prominent conservatives such as William Buckley and Milton Friedman had long advocated for ending drug prohibition, as had civil libertarians such as longtime ACLU Executive Director Ira Glasser. In the late 1980s they were joined by Baltimore Mayor Kurt Schmoke, Federal Judge Robert Sweet, Princeton professor Ethan Nadelmann, and other activists, scholars and policymakers.

In 1994, Nadelmann founded The Lindesmith Center as the first U.S. project of George Soros Open Society Institute. In 2000, the growing Center merged with the Drug Policy Foundation to create the Drug Policy Alliance.

George W. Bush arrived in the White House as the drug war was running out of steam yet he allocated more money than ever to it. His drug czar, John Walters, zealously focused on marijuana and launched a major campaign to promote student drug testing. While rates of illicit drug use remained constant, overdose fatalities rose rapidly.

The era of George W. Bush also witnessed the rapid escalation of the militarization of domestic drug law enforcement. By the end of Bush’s term, there were about 40,000 paramilitary-style SWAT raids on Americans every year mostly for nonviolent drug law offenses, often misdemeanors. While federal reform mostly stalled under Bush, state-level reforms finally began to slow the growth of the drug war.

Politicians now routinely admit to having used marijuana, and even cocaine, when they were younger. When Michael Bloomberg was questioned during his 2001 mayoral campaign about whether he had ever used marijuana, he said, “You bet I did and I enjoyed it.” Barack Obama also candidly discussed his prior cocaine and marijuana use: “When I was a kid, I inhaled frequently that was the point.”

Public opinion has shifted dramatically in favor of sensible reforms that expand health-based approaches while reducing the role of criminalization in drug policy.

Marijuana reform has gained unprecedented momentum throughout the Americas. Alaska, California, Colorado, Nevada, Oregon, Maine, Massachusetts, Washington State, and Washington D.C. have legalized marijuana for adults. In December 2013, Uruguay became the first country in the world to legally regulate marijuana. In Canada, Prime Minister Justin Trudeau plans legalize marijuana for adults by 2018.

In response to a worsening overdose epidemic, dozens of U.S. states passed laws to increase access to the overdose antidote, naloxone, as well as 911 Good Samaritan laws to encourage people to seek medical help in the event of an overdose.

Yet the assault on American citizens and others continues, with 700,000 people still arrested for marijuana offenses each year and almost 500,000 people still behind bars for nothing more than a drug law violation.

President Obama, despite supporting several successful policy changes such as reducing the crack/powder sentencing disparity, ending the ban on federal funding for syringe access programs, and ending federal interference with state medical marijuana laws did not shift the majority of drug policy funding to a health-based approach.

Now, the new administration is threatening to take us backward toward a 1980s style drug war. President Trump is calling for a wall to keep drugs out of the country, and Attorney General Jeff Sessions has made it clear that he does not support the sovereignty of states to legalize marijuana, and believes good people dont smoke marijuana.

Progress is inevitably slow, and even with an administration hostile to reform there is still unprecedented momentum behind drug policy reform in states and localities across the country. The Drug Policy Alliance and its allies will continue to advocate for health-based reforms such as marijuana legalization, drug decriminalization, safe consumption sites, naloxone access, bail reform, and more.

We look forward to a future where drug policies are shaped by science and compassion rather than political hysteria.

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A Brief History of the Drug War | Drug Policy Alliance

Information about Genetic Testing | School of Medicine …

Even with the success of the Human Genome Project, there still isn’t a genetic test for every disease. A disease may run in a family and clearly be inherited, but the gene responsible may not be identified yet. Our team will see if there is a genetic test available for the condition running in your family.

If a test exists, we will find the best laboratory to use. Some laboratories offer clinical testing and must follow federal quality control standards. Clinical laboratories typically quote a fixed price and a standard return time for results.

Other laboratories offer research testing and are usually linked to academic centers and universities. They do testing at no cost in most cases. Often research laboratories do not provide results. If they do, it may take months or years to deliver results. Research test results should be confirmed in a clinical laboratory if medical management is based on the result.

Testing costs and turnaround times vary. Genetic test results are usually ready in three to four weeks. Though genetic testing costs are often paid for by insurance carriers, patients may be required to pay some or all of the cost when the test is ordered. When indicated we can write a letter of medical necessity explaining the benefits genetic testing might have for you. This can often increase the likelihood that your insurance company will pay for the testing.

Not everyone who has a genetic disease will have a mutation or a biochemical abnormality that shows up in testing. Because of this limitation, in a family it makes sense to first test someone who has had the disease in question.

If a genetic risk factor is found, ways of managing or preventing the disease due to that genetic risk can be discussed. Additionally, at-risk relatives can check their own status by testing for that specific risk factor. If that specific genetic risk factor is not found in an at-risk relative (i.e., they have a normal test result), he or she can be reassured. If the at-risk relative has a positive genetic test result, he or she has a greater chance of getting the condition. Relatives whose risk has been confirmed can start screening and prevention practices targeted for their genetic risk.

Sometimes testing a family member who has the disease isn’t possible. (The person may be dead, unavailable or unwilling to be tested.) Then, an unaffected person can take the test. Finding a genetic risk factor will certainly give useful information. But a normal test result doesn’t always mean there’s no risk. Many genes responsible for an inherited susceptibility are not yet known. In other words, a normal test result can exclude the genetic risk factors that have been tested but not the possibility of an inherited susceptibility. It may be valuable to test other family members.

If you were to have genetic testing it would be important to interpret your test results in light of your personal and family medical history. We will also identify family members who might benefit from genetic consultation and genetic testing. If necessary, we can provide referrals for relatives outside the Denver area.

If you test positive for a genetic condition, you can better understand how this condition arose in you and your relatives. If you do not yet have symptoms, you can start to plan for the future, such as planning for a family, career, and retirement. You might want to start seeing specialists to help manage the condition. Preventive actions may be useful as well. Drugs, diet and lifestyle changes may help prevent the disease improve treatment.

Close relatives might value having this information. They can go through testing themselves to determine their disease risks and the best treatment approach.

If you test negative for a genetic risk factor that is known to run in your family you may be relieved that a major risk factor has been excluded.

Diagnosing a genetic condition does not tell us how or when the disease will develop. Although DNA-based genetic testing is very accurate, there is a chance that an inherited mutation will be missed. If a mutation is not found, the test results cannot exclude the possibility of an inherited risk since there may be a mutation in another gene for which testing was not done. If you still have symptoms of a genetic condition, a normal test result might not get you ‘off the hook’. An inherited disease risk can only be excluded if a known mutation in the family has been excluded.

Family relationships may be affected by this information. If you have a genetic condition, other family members might benefit by also knowing. In the process of sharing your genetic risk information, family members may learn things about you that you do not want known. In addition, you may learn things about relatives that you did not want to know. For example, it may be revealed that a family member is adopted.

Some people find it hard to learn that they carry a gene that makes their risk of developing a disease greater. They may feel many emotions, including anger, fear about the future, anxiety about their health or guilt about passing a mutation on to their children. They may be shocked by the news. They may go through denial or a change in their self-esteem.

Knowing that you have a higher risk of getting a particular disease (when you don’t currently show symptoms) may affect your ability to be insured (health, life and disability). Several state and federal laws prohibit use of genetic information by health insurance companies. In general, health insurers cannot use this information as a pre-existing condition that could disqualify you when applying for new insurance. Genetic information cannot be used to raise premium payments or to deny coverage. However, these laws are not fully comprehensive and may not entirely prevent discrimination. You may want to contact your insurance company to see what effect, if any, genetic testing may have on your coverage.

Sometimes genetic test results are uninformative or ambiguous, making it difficult or impossible to say if a person has a higher risk. These ambiguous results can be the most difficult as they don’t provide a clear-cut answer.

For people with normal test results, where the genetic risk in the family has been excluded, a variety of emotions might occur. Most people feel tremendous relief. Others may feel survivor guilt, wondering why they were spared the risk. This can sometimes lead to changes in relationships between family members.

In some cases, an inherited risk for disease seems likely but the gene responsible has not yet been identified. The Adult Medical Genetics Program can help link families with researchers studying that disease. We can contact researchers for you and help you become part of the gene discovery studies. Although being part of research studies doesn’t always give you answers, it does allow you to contribute to science.

More:

Information about Genetic Testing | School of Medicine …

Genetic predisposition – Wikipedia

A genetic predisposition is a genetic characteristic which influences the possible phenotypic development of an individual organism within a species or population under the influence of environmental conditions. In medicine, genetic susceptibility to a disease refers to a genetic predisposition to a health problem,[1] which may eventually be triggered by particular environmental or lifestyle factors, such as tobacco smoking or diet. Genetic testing is able to identify individuals who are genetically predisposed to certain diseases.

Predisposition is the capacity we are born with to learn things such as language and concept of self. Negative environmental influences may block the predisposition (ability) we have to do some things. Behaviors displayed by animals can be influenced by genetic predispositions. Genetic predisposition towards certain human behaviors is scientifically investigated by attempts to identify patterns of human behavior that seem to be invariant over long periods of time and in very different cultures.

For example, philosopher Daniel Dennett has proposed that humans are genetically predisposed to have a theory of mind because there has been evolutionary selection for the human ability to adopt the intentional stance.[1] The intentional stance is a useful behavioral strategy by which humans assume that others have minds like their own. This assumption allows you to predict the behavior of others based on personal knowledge of what you would do.

In 1951, Hans Eysenck and Donald Prell published an experiment in which identical (monozygotic) and fraternal (dizygotic) twins, ages 11 and 12, were tested for neuroticism. It is described in detail in an article published in the Journal of Mental Science. in which Eysenck and Prell concluded that, “The factor of neuroticism is not a statistical artifact, but constitutes a biological unit which is inherited as a whole….neurotic Genetic predisposition is to a large extent hereditarily determined.”[2]

E. O. Wilson’s book on sociobiology and his book Consilience discuss the idea of genetic predisposition to behaviors

The field of evolutionary psychology explores the idea that certain behaviors have been selected for during the course of evolution.

The Genetic Information Nondiscrimination Act, which was signed into law by President Bush on May 21, 2008,[3] prohibits discrimination in employment and health insurance based on genetic information.

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Genetic predisposition – Wikipedia

Information about Genetic Testing | School of Medicine …

Even with the success of the Human Genome Project, there still isn’t a genetic test for every disease. A disease may run in a family and clearly be inherited, but the gene responsible may not be identified yet. Our team will see if there is a genetic test available for the condition running in your family.

If a test exists, we will find the best laboratory to use. Some laboratories offer clinical testing and must follow federal quality control standards. Clinical laboratories typically quote a fixed price and a standard return time for results.

Other laboratories offer research testing and are usually linked to academic centers and universities. They do testing at no cost in most cases. Often research laboratories do not provide results. If they do, it may take months or years to deliver results. Research test results should be confirmed in a clinical laboratory if medical management is based on the result.

Testing costs and turnaround times vary. Genetic test results are usually ready in three to four weeks. Though genetic testing costs are often paid for by insurance carriers, patients may be required to pay some or all of the cost when the test is ordered. When indicated we can write a letter of medical necessity explaining the benefits genetic testing might have for you. This can often increase the likelihood that your insurance company will pay for the testing.

Not everyone who has a genetic disease will have a mutation or a biochemical abnormality that shows up in testing. Because of this limitation, in a family it makes sense to first test someone who has had the disease in question.

If a genetic risk factor is found, ways of managing or preventing the disease due to that genetic risk can be discussed. Additionally, at-risk relatives can check their own status by testing for that specific risk factor. If that specific genetic risk factor is not found in an at-risk relative (i.e., they have a normal test result), he or she can be reassured. If the at-risk relative has a positive genetic test result, he or she has a greater chance of getting the condition. Relatives whose risk has been confirmed can start screening and prevention practices targeted for their genetic risk.

Sometimes testing a family member who has the disease isn’t possible. (The person may be dead, unavailable or unwilling to be tested.) Then, an unaffected person can take the test. Finding a genetic risk factor will certainly give useful information. But a normal test result doesn’t always mean there’s no risk. Many genes responsible for an inherited susceptibility are not yet known. In other words, a normal test result can exclude the genetic risk factors that have been tested but not the possibility of an inherited susceptibility. It may be valuable to test other family members.

If you were to have genetic testing it would be important to interpret your test results in light of your personal and family medical history. We will also identify family members who might benefit from genetic consultation and genetic testing. If necessary, we can provide referrals for relatives outside the Denver area.

If you test positive for a genetic condition, you can better understand how this condition arose in you and your relatives. If you do not yet have symptoms, you can start to plan for the future, such as planning for a family, career, and retirement. You might want to start seeing specialists to help manage the condition. Preventive actions may be useful as well. Drugs, diet and lifestyle changes may help prevent the disease improve treatment.

Close relatives might value having this information. They can go through testing themselves to determine their disease risks and the best treatment approach.

If you test negative for a genetic risk factor that is known to run in your family you may be relieved that a major risk factor has been excluded.

Diagnosing a genetic condition does not tell us how or when the disease will develop. Although DNA-based genetic testing is very accurate, there is a chance that an inherited mutation will be missed. If a mutation is not found, the test results cannot exclude the possibility of an inherited risk since there may be a mutation in another gene for which testing was not done. If you still have symptoms of a genetic condition, a normal test result might not get you ‘off the hook’. An inherited disease risk can only be excluded if a known mutation in the family has been excluded.

Family relationships may be affected by this information. If you have a genetic condition, other family members might benefit by also knowing. In the process of sharing your genetic risk information, family members may learn things about you that you do not want known. In addition, you may learn things about relatives that you did not want to know. For example, it may be revealed that a family member is adopted.

Some people find it hard to learn that they carry a gene that makes their risk of developing a disease greater. They may feel many emotions, including anger, fear about the future, anxiety about their health or guilt about passing a mutation on to their children. They may be shocked by the news. They may go through denial or a change in their self-esteem.

Knowing that you have a higher risk of getting a particular disease (when you don’t currently show symptoms) may affect your ability to be insured (health, life and disability). Several state and federal laws prohibit use of genetic information by health insurance companies. In general, health insurers cannot use this information as a pre-existing condition that could disqualify you when applying for new insurance. Genetic information cannot be used to raise premium payments or to deny coverage. However, these laws are not fully comprehensive and may not entirely prevent discrimination. You may want to contact your insurance company to see what effect, if any, genetic testing may have on your coverage.

Sometimes genetic test results are uninformative or ambiguous, making it difficult or impossible to say if a person has a higher risk. These ambiguous results can be the most difficult as they don’t provide a clear-cut answer.

For people with normal test results, where the genetic risk in the family has been excluded, a variety of emotions might occur. Most people feel tremendous relief. Others may feel survivor guilt, wondering why they were spared the risk. This can sometimes lead to changes in relationships between family members.

In some cases, an inherited risk for disease seems likely but the gene responsible has not yet been identified. The Adult Medical Genetics Program can help link families with researchers studying that disease. We can contact researchers for you and help you become part of the gene discovery studies. Although being part of research studies doesn’t always give you answers, it does allow you to contribute to science.

Originally posted here:

Information about Genetic Testing | School of Medicine …

About the Fred A. Litwin Family Centre in Genetic Medicine

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About the Fred A. Litwin Family Centre in Genetic Medicine

Medical genetics – Wikipedia

Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.

In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). Genetic medicine is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine.

Medical genetics encompasses many different areas, including clinical practice of physicians, genetic counselors, and nutritionists, clinical diagnostic laboratory activities, and research into the causes and inheritance of genetic disorders. Examples of conditions that fall within the scope of medical genetics include birth defects and dysmorphology, mental retardation, autism, mitochondrial disorders, skeletal dysplasia, connective tissue disorders, cancer genetics, teratogens, and prenatal diagnosis. Medical genetics is increasingly becoming relevant to many common diseases. Overlaps with other medical specialties are beginning to emerge, as recent advances in genetics are revealing etiologies for neurologic, endocrine, cardiovascular, pulmonary, ophthalmologic, renal, psychiatric, and dermatologic conditions.

In some ways, many of the individual fields within medical genetics are hybrids between clinical care and research. This is due in part to recent advances in science and technology (for example, see the Human genome project) that have enabled an unprecedented understanding of genetic disorders.

Clinical genetics is the practice of clinical medicine with particular attention to hereditary disorders. Referrals are made to genetics clinics for a variety of reasons, including birth defects, developmental delay, autism, epilepsy, short stature, and many others. Examples of genetic syndromes that are commonly seen in the genetics clinic include chromosomal rearrangements, Down syndrome, DiGeorge syndrome (22q11.2 Deletion Syndrome), Fragile X syndrome, Marfan syndrome, Neurofibromatosis, Turner syndrome, and Williams syndrome.

In the United States, physicians who practice clinical genetics are accredited by the American Board of Medical Genetics and Genomics (ABMGG).[1] In order to become a board-certified practitioner of Clinical Genetics, a physician must complete a minimum of 24 months of training in a program accredited by the ABMGG. Individuals seeking acceptance into clinical genetics training programs must hold an M.D. or D.O. degree (or their equivalent) and have completed a minimum of 24 months of training in an ACGME-accredited residency program in internal medicine, pediatrics, obstetrics and gynecology, or other medical specialty.[2]

Metabolic (or biochemical) genetics involves the diagnosis and management of inborn errors of metabolism in which patients have enzymatic deficiencies that perturb biochemical pathways involved in metabolism of carbohydrates, amino acids, and lipids. Examples of metabolic disorders include galactosemia, glycogen storage disease, lysosomal storage disorders, metabolic acidosis, peroxisomal disorders, phenylketonuria, and urea cycle disorders.

Cytogenetics is the study of chromosomes and chromosome abnormalities. While cytogenetics historically relied on microscopy to analyze chromosomes, new molecular technologies such as array comparative genomic hybridization are now becoming widely used. Examples of chromosome abnormalities include aneuploidy, chromosomal rearrangements, and genomic deletion/duplication disorders.

Molecular genetics involves the discovery of and laboratory testing for DNA mutations that underlie many single gene disorders. Examples of single gene disorders include achondroplasia, cystic fibrosis, Duchenne muscular dystrophy, hereditary breast cancer (BRCA1/2), Huntington disease, Marfan syndrome, Noonan syndrome, and Rett syndrome. Molecular tests are also used in the diagnosis of syndromes involving epigenetic abnormalities, such as Angelman syndrome, Beckwith-Wiedemann syndrome, Prader-willi syndrome, and uniparental disomy.

Mitochondrial genetics concerns the diagnosis and management of mitochondrial disorders, which have a molecular basis but often result in biochemical abnormalities due to deficient energy production.

There exists some overlap between medical genetic diagnostic laboratories and molecular pathology.

Genetic counseling is the process of providing information about genetic conditions, diagnostic testing, and risks in other family members, within the framework of nondirective counseling. Genetic counselors are non-physician members of the medical genetics team who specialize in family risk assessment and counseling of patients regarding genetic disorders. The precise role of the genetic counselor varies somewhat depending on the disorder.

Although genetics has its roots back in the 19th century with the work of the Bohemian monk Gregor Mendel and other pioneering scientists, human genetics emerged later. It started to develop, albeit slowly, during the first half of the 20th century. Mendelian (single-gene) inheritance was studied in a number of important disorders such as albinism, brachydactyly (short fingers and toes), and hemophilia. Mathematical approaches were also devised and applied to human genetics. Population genetics was created.

Medical genetics was a late developer, emerging largely after the close of World War II (1945) when the eugenics movement had fallen into disrepute. The Nazi misuse of eugenics sounded its death knell. Shorn of eugenics, a scientific approach could be used and was applied to human and medical genetics. Medical genetics saw an increasingly rapid rise in the second half of the 20th century and continues in the 21st century.

The clinical setting in which patients are evaluated determines the scope of practice, diagnostic, and therapeutic interventions. For the purposes of general discussion, the typical encounters between patients and genetic practitioners may involve:

Each patient will undergo a diagnostic evaluation tailored to their own particular presenting signs and symptoms. The geneticist will establish a differential diagnosis and recommend appropriate testing. These tests might evaluate for chromosomal disorders, inborn errors of metabolism, or single gene disorders.

Chromosome studies are used in the general genetics clinic to determine a cause for developmental delay/mental retardation, birth defects, dysmorphic features, and/or autism. Chromosome analysis is also performed in the prenatal setting to determine whether a fetus is affected with aneuploidy or other chromosome rearrangements. Finally, chromosome abnormalities are often detected in cancer samples. A large number of different methods have been developed for chromosome analysis:

Biochemical studies are performed to screen for imbalances of metabolites in the bodily fluid, usually the blood (plasma/serum) or urine, but also in cerebrospinal fluid (CSF). Specific tests of enzyme function (either in leukocytes, skin fibroblasts, liver, or muscle) are also employed under certain circumstances. In the US, the newborn screen incorporates biochemical tests to screen for treatable conditions such as galactosemia and phenylketonuria (PKU). Patients suspected to have a metabolic condition might undergo the following tests:

Each cell of the body contains the hereditary information (DNA) wrapped up in structures called chromosomes. Since genetic syndromes are typically the result of alterations of the chromosomes or genes, there is no treatment currently available that can correct the genetic alterations in every cell of the body. Therefore, there is currently no “cure” for genetic disorders. However, for many genetic syndromes there is treatment available to manage the symptoms. In some cases, particularly inborn errors of metabolism, the mechanism of disease is well understood and offers the potential for dietary and medical management to prevent or reduce the long-term complications. In other cases, infusion therapy is used to replace the missing enzyme. Current research is actively seeking to use gene therapy or other new medications to treat specific genetic disorders.

In general, metabolic disorders arise from enzyme deficiencies that disrupt normal metabolic pathways. For instance, in the hypothetical example:

Compound “A” is metabolized to “B” by enzyme “X”, compound “B” is metabolized to “C” by enzyme “Y”, and compound “C” is metabolized to “D” by enzyme “Z”. If enzyme “Z” is missing, compound “D” will be missing, while compounds “A”, “B”, and “C” will build up. The pathogenesis of this particular condition could result from lack of compound “D”, if it is critical for some cellular function, or from toxicity due to excess “A”, “B”, and/or “C”. Treatment of the metabolic disorder could be achieved through dietary supplementation of compound “D” and dietary restriction of compounds “A”, “B”, and/or “C” or by treatment with a medication that promoted disposal of excess “A”, “B”, or “C”. Another approach that can be taken is enzyme replacement therapy, in which a patient is given an infusion of the missing enzyme.

Dietary restriction and supplementation are key measures taken in several well-known metabolic disorders, including galactosemia, phenylketonuria (PKU), maple syrup urine disease, organic acidurias and urea cycle disorders. Such restrictive diets can be difficult for the patient and family to maintain, and require close consultation with a nutritionist who has special experience in metabolic disorders. The composition of the diet will change depending on the caloric needs of the growing child and special attention is needed during a pregnancy if a woman is affected with one of these disorders.

Medical approaches include enhancement of residual enzyme activity (in cases where the enzyme is made but is not functioning properly), inhibition of other enzymes in the biochemical pathway to prevent buildup of a toxic compound, or diversion of a toxic compound to another form that can be excreted. Examples include the use of high doses of pyridoxine (vitamin B6) in some patients with homocystinuria to boost the activity of the residual cystathione synthase enzyme, administration of biotin to restore activity of several enzymes affected by deficiency of biotinidase, treatment with NTBC in Tyrosinemia to inhibit the production of succinylacetone which causes liver toxicity, and the use of sodium benzoate to decrease ammonia build-up in urea cycle disorders.

Certain lysosomal storage diseases are treated with infusions of a recombinant enzyme (produced in a laboratory), which can reduce the accumulation of the compounds in various tissues. Examples include Gaucher disease, Fabry disease, Mucopolysaccharidoses and Glycogen storage disease type II. Such treatments are limited by the ability of the enzyme to reach the affected areas (the blood brain barrier prevents enzyme from reaching the brain, for example), and can sometimes be associated with allergic reactions. The long-term clinical effectiveness of enzyme replacement therapies vary widely among different disorders.

There are a variety of career paths within the field of medical genetics, and naturally the training required for each area differs considerably. The information included in this section applies to the typical pathways in the United States and there may be differences in other countries. US practitioners in clinical, counseling, or diagnostic subspecialties generally obtain board certification through the American Board of Medical Genetics.

Genetic information provides a unique type of knowledge about an individual and his/her family, fundamentally different from a typically laboratory test that provides a “snapshot” of an individual’s health status. The unique status of genetic information and inherited disease has a number of ramifications with regard to ethical, legal, and societal concerns.

On 19 March 2015, scientists urged a worldwide ban on clinical use of methods, particularly the use of CRISPR and zinc finger, to edit the human genome in a way that can be inherited.[3][4][5][6] In April 2015 and April 2016, Chinese researchers reported results of basic research to edit the DNA of non-viable human embryos using CRISPR.[7][8][9] In February 2016, British scientists were given permission by regulators to genetically modify human embryos by using CRISPR and related techniques on condition that the embryos were destroyed within seven days.[10] In June 2016 the Dutch government was reported to be planning to follow suit with similar regulations which would specify a 14-day limit.[11]

The more empirical approach to human and medical genetics was formalized by the founding in 1948 of the American Society of Human Genetics. The Society first began annual meetings that year (1948) and its international counterpart, the International Congress of Human Genetics, has met every 5 years since its inception in 1956. The Society publishes the American Journal of Human Genetics on a monthly basis.

Medical genetics is now recognized as a distinct medical specialty in the U.S. with its own approved board (the American Board of Medical Genetics) and clinical specialty college (the American College of Medical Genetics). The College holds an annual scientific meeting, publishes a monthly journal, Genetics in Medicine, and issues position papers and clinical practice guidelines on a variety of topics relevant to human genetics.

The broad range of research in medical genetics reflects the overall scope of this field, including basic research on genetic inheritance and the human genome, mechanisms of genetic and metabolic disorders, translational research on new treatment modalities, and the impact of genetic testing

Basic research geneticists usually undertake research in universities, biotechnology firms and research institutes.

Sometimes the link between a disease and an unusual gene variant is more subtle. The genetic architecture of common diseases is an important factor in determining the extent to which patterns of genetic variation influence group differences in health outcomes.[12][13][14] According to the common disease/common variant hypothesis, common variants present in the ancestral population before the dispersal of modern humans from Africa play an important role in human diseases.[15] Genetic variants associated with Alzheimer disease, deep venous thrombosis, Crohn disease, and type 2 diabetes appear to adhere to this model.[16] However, the generality of the model has not yet been established and, in some cases, is in doubt.[13][17][18] Some diseases, such as many common cancers, appear not to be well described by the common disease/common variant model.[19]

Another possibility is that common diseases arise in part through the action of combinations of variants that are individually rare.[20][21] Most of the disease-associated alleles discovered to date have been rare, and rare variants are more likely than common variants to be differentially distributed among groups distinguished by ancestry.[19][22] However, groups could harbor different, though perhaps overlapping, sets of rare variants, which would reduce contrasts between groups in the incidence of the disease.

The number of variants contributing to a disease and the interactions among those variants also could influence the distribution of diseases among groups. The difficulty that has been encountered in finding contributory alleles for complex diseases and in replicating positive associations suggests that many complex diseases involve numerous variants rather than a moderate number of alleles, and the influence of any given variant may depend in critical ways on the genetic and environmental background.[17][23][24][25] If many alleles are required to increase susceptibility to a disease, the odds are low that the necessary combination of alleles would become concentrated in a particular group purely through drift.[26]

One area in which population categories can be important considerations in genetics research is in controlling for confounding between population substructure, environmental exposures, and health outcomes. Association studies can produce spurious results if cases and controls have differing allele frequencies for genes that are not related to the disease being studied,[27] although the magnitude of this problem in genetic association studies is subject to debate.[28][29] Various methods have been developed to detect and account for population substructure,[30][31] but these methods can be difficult to apply in practice.[32]

Population substructure also can be used to advantage in genetic association studies. For example, populations that represent recent mixtures of geographically separated ancestral groups can exhibit longer-range linkage disequilibrium between susceptibility alleles and genetic markers than is the case for other populations.[33][34][35][36] Genetic studies can use this admixture linkage disequilibrium to search for disease alleles with fewer markers than would be needed otherwise. Association studies also can take advantage of the contrasting experiences of racial or ethnic groups, including migrant groups, to search for interactions between particular alleles and environmental factors that might influence health.[37][38]

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Medical genetics – Wikipedia

Information about Genetic Testing | School of Medicine …

Even with the success of the Human Genome Project, there still isn’t a genetic test for every disease. A disease may run in a family and clearly be inherited, but the gene responsible may not be identified yet. Our team will see if there is a genetic test available for the condition running in your family.

If a test exists, we will find the best laboratory to use. Some laboratories offer clinical testing and must follow federal quality control standards. Clinical laboratories typically quote a fixed price and a standard return time for results.

Other laboratories offer research testing and are usually linked to academic centers and universities. They do testing at no cost in most cases. Often research laboratories do not provide results. If they do, it may take months or years to deliver results. Research test results should be confirmed in a clinical laboratory if medical management is based on the result.

Testing costs and turnaround times vary. Genetic test results are usually ready in three to four weeks. Though genetic testing costs are often paid for by insurance carriers, patients may be required to pay some or all of the cost when the test is ordered. When indicated we can write a letter of medical necessity explaining the benefits genetic testing might have for you. This can often increase the likelihood that your insurance company will pay for the testing.

Not everyone who has a genetic disease will have a mutation or a biochemical abnormality that shows up in testing. Because of this limitation, in a family it makes sense to first test someone who has had the disease in question.

If a genetic risk factor is found, ways of managing or preventing the disease due to that genetic risk can be discussed. Additionally, at-risk relatives can check their own status by testing for that specific risk factor. If that specific genetic risk factor is not found in an at-risk relative (i.e., they have a normal test result), he or she can be reassured. If the at-risk relative has a positive genetic test result, he or she has a greater chance of getting the condition. Relatives whose risk has been confirmed can start screening and prevention practices targeted for their genetic risk.

Sometimes testing a family member who has the disease isn’t possible. (The person may be dead, unavailable or unwilling to be tested.) Then, an unaffected person can take the test. Finding a genetic risk factor will certainly give useful information. But a normal test result doesn’t always mean there’s no risk. Many genes responsible for an inherited susceptibility are not yet known. In other words, a normal test result can exclude the genetic risk factors that have been tested but not the possibility of an inherited susceptibility. It may be valuable to test other family members.

If you were to have genetic testing it would be important to interpret your test results in light of your personal and family medical history. We will also identify family members who might benefit from genetic consultation and genetic testing. If necessary, we can provide referrals for relatives outside the Denver area.

If you test positive for a genetic condition, you can better understand how this condition arose in you and your relatives. If you do not yet have symptoms, you can start to plan for the future, such as planning for a family, career, and retirement. You might want to start seeing specialists to help manage the condition. Preventive actions may be useful as well. Drugs, diet and lifestyle changes may help prevent the disease improve treatment.

Close relatives might value having this information. They can go through testing themselves to determine their disease risks and the best treatment approach.

If you test negative for a genetic risk factor that is known to run in your family you may be relieved that a major risk factor has been excluded.

Diagnosing a genetic condition does not tell us how or when the disease will develop. Although DNA-based genetic testing is very accurate, there is a chance that an inherited mutation will be missed. If a mutation is not found, the test results cannot exclude the possibility of an inherited risk since there may be a mutation in another gene for which testing was not done. If you still have symptoms of a genetic condition, a normal test result might not get you ‘off the hook’. An inherited disease risk can only be excluded if a known mutation in the family has been excluded.

Family relationships may be affected by this information. If you have a genetic condition, other family members might benefit by also knowing. In the process of sharing your genetic risk information, family members may learn things about you that you do not want known. In addition, you may learn things about relatives that you did not want to know. For example, it may be revealed that a family member is adopted.

Some people find it hard to learn that they carry a gene that makes their risk of developing a disease greater. They may feel many emotions, including anger, fear about the future, anxiety about their health or guilt about passing a mutation on to their children. They may be shocked by the news. They may go through denial or a change in their self-esteem.

Knowing that you have a higher risk of getting a particular disease (when you don’t currently show symptoms) may affect your ability to be insured (health, life and disability). Several state and federal laws prohibit use of genetic information by health insurance companies. In general, health insurers cannot use this information as a pre-existing condition that could disqualify you when applying for new insurance. Genetic information cannot be used to raise premium payments or to deny coverage. However, these laws are not fully comprehensive and may not entirely prevent discrimination. You may want to contact your insurance company to see what effect, if any, genetic testing may have on your coverage.

Sometimes genetic test results are uninformative or ambiguous, making it difficult or impossible to say if a person has a higher risk. These ambiguous results can be the most difficult as they don’t provide a clear-cut answer.

For people with normal test results, where the genetic risk in the family has been excluded, a variety of emotions might occur. Most people feel tremendous relief. Others may feel survivor guilt, wondering why they were spared the risk. This can sometimes lead to changes in relationships between family members.

In some cases, an inherited risk for disease seems likely but the gene responsible has not yet been identified. The Adult Medical Genetics Program can help link families with researchers studying that disease. We can contact researchers for you and help you become part of the gene discovery studies. Although being part of research studies doesn’t always give you answers, it does allow you to contribute to science.

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Information about Genetic Testing | School of Medicine …

About the Fred A. Litwin Family Centre in Genetic Medicine

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About the Fred A. Litwin Family Centre in Genetic Medicine

Genetic predisposition – Wikipedia

A genetic predisposition is a genetic characteristic which influences the possible phenotypic development of an individual organism within a species or population under the influence of environmental conditions. In medicine, genetic susceptibility to a disease refers to a genetic predisposition to a health problem,[1] which may eventually be triggered by particular environmental or lifestyle factors, such as tobacco smoking or diet. Genetic testing is able to identify individuals who are genetically predisposed to certain diseases.

Predisposition is the capacity we are born with to learn things such as language and concept of self. Negative environmental influences may block the predisposition (ability) we have to do some things. Behaviors displayed by animals can be influenced by genetic predispositions. Genetic predisposition towards certain human behaviors is scientifically investigated by attempts to identify patterns of human behavior that seem to be invariant over long periods of time and in very different cultures.

For example, philosopher Daniel Dennett has proposed that humans are genetically predisposed to have a theory of mind because there has been evolutionary selection for the human ability to adopt the intentional stance.[1] The intentional stance is a useful behavioral strategy by which humans assume that others have minds like their own. This assumption allows you to predict the behavior of others based on personal knowledge of what you would do.

In 1951, Hans Eysenck and Donald Prell published an experiment in which identical (monozygotic) and fraternal (dizygotic) twins, ages 11 and 12, were tested for neuroticism. It is described in detail in an article published in the Journal of Mental Science. in which Eysenck and Prell concluded that, “The factor of neuroticism is not a statistical artifact, but constitutes a biological unit which is inherited as a whole….neurotic Genetic predisposition is to a large extent hereditarily determined.”[2]

E. O. Wilson’s book on sociobiology and his book Consilience discuss the idea of genetic predisposition to behaviors

The field of evolutionary psychology explores the idea that certain behaviors have been selected for during the course of evolution.

The Genetic Information Nondiscrimination Act, which was signed into law by President Bush on May 21, 2008,[3] prohibits discrimination in employment and health insurance based on genetic information.

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Genetic predisposition – Wikipedia

Medical genetics – Wikipedia

Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.

In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). Genetic medicine is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine.

Medical genetics encompasses many different areas, including clinical practice of physicians, genetic counselors, and nutritionists, clinical diagnostic laboratory activities, and research into the causes and inheritance of genetic disorders. Examples of conditions that fall within the scope of medical genetics include birth defects and dysmorphology, mental retardation, autism, mitochondrial disorders, skeletal dysplasia, connective tissue disorders, cancer genetics, teratogens, and prenatal diagnosis. Medical genetics is increasingly becoming relevant to many common diseases. Overlaps with other medical specialties are beginning to emerge, as recent advances in genetics are revealing etiologies for neurologic, endocrine, cardiovascular, pulmonary, ophthalmologic, renal, psychiatric, and dermatologic conditions.

In some ways, many of the individual fields within medical genetics are hybrids between clinical care and research. This is due in part to recent advances in science and technology (for example, see the Human genome project) that have enabled an unprecedented understanding of genetic disorders.

Clinical genetics is the practice of clinical medicine with particular attention to hereditary disorders. Referrals are made to genetics clinics for a variety of reasons, including birth defects, developmental delay, autism, epilepsy, short stature, and many others. Examples of genetic syndromes that are commonly seen in the genetics clinic include chromosomal rearrangements, Down syndrome, DiGeorge syndrome (22q11.2 Deletion Syndrome), Fragile X syndrome, Marfan syndrome, Neurofibromatosis, Turner syndrome, and Williams syndrome.

In the United States, physicians who practice clinical genetics are accredited by the American Board of Medical Genetics and Genomics (ABMGG).[1] In order to become a board-certified practitioner of Clinical Genetics, a physician must complete a minimum of 24 months of training in a program accredited by the ABMGG. Individuals seeking acceptance into clinical genetics training programs must hold an M.D. or D.O. degree (or their equivalent) and have completed a minimum of 24 months of training in an ACGME-accredited residency program in internal medicine, pediatrics, obstetrics and gynecology, or other medical specialty.[2]

Metabolic (or biochemical) genetics involves the diagnosis and management of inborn errors of metabolism in which patients have enzymatic deficiencies that perturb biochemical pathways involved in metabolism of carbohydrates, amino acids, and lipids. Examples of metabolic disorders include galactosemia, glycogen storage disease, lysosomal storage disorders, metabolic acidosis, peroxisomal disorders, phenylketonuria, and urea cycle disorders.

Cytogenetics is the study of chromosomes and chromosome abnormalities. While cytogenetics historically relied on microscopy to analyze chromosomes, new molecular technologies such as array comparative genomic hybridization are now becoming widely used. Examples of chromosome abnormalities include aneuploidy, chromosomal rearrangements, and genomic deletion/duplication disorders.

Molecular genetics involves the discovery of and laboratory testing for DNA mutations that underlie many single gene disorders. Examples of single gene disorders include achondroplasia, cystic fibrosis, Duchenne muscular dystrophy, hereditary breast cancer (BRCA1/2), Huntington disease, Marfan syndrome, Noonan syndrome, and Rett syndrome. Molecular tests are also used in the diagnosis of syndromes involving epigenetic abnormalities, such as Angelman syndrome, Beckwith-Wiedemann syndrome, Prader-willi syndrome, and uniparental disomy.

Mitochondrial genetics concerns the diagnosis and management of mitochondrial disorders, which have a molecular basis but often result in biochemical abnormalities due to deficient energy production.

There exists some overlap between medical genetic diagnostic laboratories and molecular pathology.

Genetic counseling is the process of providing information about genetic conditions, diagnostic testing, and risks in other family members, within the framework of nondirective counseling. Genetic counselors are non-physician members of the medical genetics team who specialize in family risk assessment and counseling of patients regarding genetic disorders. The precise role of the genetic counselor varies somewhat depending on the disorder.

Although genetics has its roots back in the 19th century with the work of the Bohemian monk Gregor Mendel and other pioneering scientists, human genetics emerged later. It started to develop, albeit slowly, during the first half of the 20th century. Mendelian (single-gene) inheritance was studied in a number of important disorders such as albinism, brachydactyly (short fingers and toes), and hemophilia. Mathematical approaches were also devised and applied to human genetics. Population genetics was created.

Medical genetics was a late developer, emerging largely after the close of World War II (1945) when the eugenics movement had fallen into disrepute. The Nazi misuse of eugenics sounded its death knell. Shorn of eugenics, a scientific approach could be used and was applied to human and medical genetics. Medical genetics saw an increasingly rapid rise in the second half of the 20th century and continues in the 21st century.

The clinical setting in which patients are evaluated determines the scope of practice, diagnostic, and therapeutic interventions. For the purposes of general discussion, the typical encounters between patients and genetic practitioners may involve:

Each patient will undergo a diagnostic evaluation tailored to their own particular presenting signs and symptoms. The geneticist will establish a differential diagnosis and recommend appropriate testing. These tests might evaluate for chromosomal disorders, inborn errors of metabolism, or single gene disorders.

Chromosome studies are used in the general genetics clinic to determine a cause for developmental delay/mental retardation, birth defects, dysmorphic features, and/or autism. Chromosome analysis is also performed in the prenatal setting to determine whether a fetus is affected with aneuploidy or other chromosome rearrangements. Finally, chromosome abnormalities are often detected in cancer samples. A large number of different methods have been developed for chromosome analysis:

Biochemical studies are performed to screen for imbalances of metabolites in the bodily fluid, usually the blood (plasma/serum) or urine, but also in cerebrospinal fluid (CSF). Specific tests of enzyme function (either in leukocytes, skin fibroblasts, liver, or muscle) are also employed under certain circumstances. In the US, the newborn screen incorporates biochemical tests to screen for treatable conditions such as galactosemia and phenylketonuria (PKU). Patients suspected to have a metabolic condition might undergo the following tests:

Each cell of the body contains the hereditary information (DNA) wrapped up in structures called chromosomes. Since genetic syndromes are typically the result of alterations of the chromosomes or genes, there is no treatment currently available that can correct the genetic alterations in every cell of the body. Therefore, there is currently no “cure” for genetic disorders. However, for many genetic syndromes there is treatment available to manage the symptoms. In some cases, particularly inborn errors of metabolism, the mechanism of disease is well understood and offers the potential for dietary and medical management to prevent or reduce the long-term complications. In other cases, infusion therapy is used to replace the missing enzyme. Current research is actively seeking to use gene therapy or other new medications to treat specific genetic disorders.

In general, metabolic disorders arise from enzyme deficiencies that disrupt normal metabolic pathways. For instance, in the hypothetical example:

Compound “A” is metabolized to “B” by enzyme “X”, compound “B” is metabolized to “C” by enzyme “Y”, and compound “C” is metabolized to “D” by enzyme “Z”. If enzyme “Z” is missing, compound “D” will be missing, while compounds “A”, “B”, and “C” will build up. The pathogenesis of this particular condition could result from lack of compound “D”, if it is critical for some cellular function, or from toxicity due to excess “A”, “B”, and/or “C”. Treatment of the metabolic disorder could be achieved through dietary supplementation of compound “D” and dietary restriction of compounds “A”, “B”, and/or “C” or by treatment with a medication that promoted disposal of excess “A”, “B”, or “C”. Another approach that can be taken is enzyme replacement therapy, in which a patient is given an infusion of the missing enzyme.

Dietary restriction and supplementation are key measures taken in several well-known metabolic disorders, including galactosemia, phenylketonuria (PKU), maple syrup urine disease, organic acidurias and urea cycle disorders. Such restrictive diets can be difficult for the patient and family to maintain, and require close consultation with a nutritionist who has special experience in metabolic disorders. The composition of the diet will change depending on the caloric needs of the growing child and special attention is needed during a pregnancy if a woman is affected with one of these disorders.

Medical approaches include enhancement of residual enzyme activity (in cases where the enzyme is made but is not functioning properly), inhibition of other enzymes in the biochemical pathway to prevent buildup of a toxic compound, or diversion of a toxic compound to another form that can be excreted. Examples include the use of high doses of pyridoxine (vitamin B6) in some patients with homocystinuria to boost the activity of the residual cystathione synthase enzyme, administration of biotin to restore activity of several enzymes affected by deficiency of biotinidase, treatment with NTBC in Tyrosinemia to inhibit the production of succinylacetone which causes liver toxicity, and the use of sodium benzoate to decrease ammonia build-up in urea cycle disorders.

Certain lysosomal storage diseases are treated with infusions of a recombinant enzyme (produced in a laboratory), which can reduce the accumulation of the compounds in various tissues. Examples include Gaucher disease, Fabry disease, Mucopolysaccharidoses and Glycogen storage disease type II. Such treatments are limited by the ability of the enzyme to reach the affected areas (the blood brain barrier prevents enzyme from reaching the brain, for example), and can sometimes be associated with allergic reactions. The long-term clinical effectiveness of enzyme replacement therapies vary widely among different disorders.

There are a variety of career paths within the field of medical genetics, and naturally the training required for each area differs considerably. The information included in this section applies to the typical pathways in the United States and there may be differences in other countries. US practitioners in clinical, counseling, or diagnostic subspecialties generally obtain board certification through the American Board of Medical Genetics.

Genetic information provides a unique type of knowledge about an individual and his/her family, fundamentally different from a typically laboratory test that provides a “snapshot” of an individual’s health status. The unique status of genetic information and inherited disease has a number of ramifications with regard to ethical, legal, and societal concerns.

On 19 March 2015, scientists urged a worldwide ban on clinical use of methods, particularly the use of CRISPR and zinc finger, to edit the human genome in a way that can be inherited.[3][4][5][6] In April 2015 and April 2016, Chinese researchers reported results of basic research to edit the DNA of non-viable human embryos using CRISPR.[7][8][9] In February 2016, British scientists were given permission by regulators to genetically modify human embryos by using CRISPR and related techniques on condition that the embryos were destroyed within seven days.[10] In June 2016 the Dutch government was reported to be planning to follow suit with similar regulations which would specify a 14-day limit.[11]

The more empirical approach to human and medical genetics was formalized by the founding in 1948 of the American Society of Human Genetics. The Society first began annual meetings that year (1948) and its international counterpart, the International Congress of Human Genetics, has met every 5 years since its inception in 1956. The Society publishes the American Journal of Human Genetics on a monthly basis.

Medical genetics is now recognized as a distinct medical specialty in the U.S. with its own approved board (the American Board of Medical Genetics) and clinical specialty college (the American College of Medical Genetics). The College holds an annual scientific meeting, publishes a monthly journal, Genetics in Medicine, and issues position papers and clinical practice guidelines on a variety of topics relevant to human genetics.

The broad range of research in medical genetics reflects the overall scope of this field, including basic research on genetic inheritance and the human genome, mechanisms of genetic and metabolic disorders, translational research on new treatment modalities, and the impact of genetic testing

Basic research geneticists usually undertake research in universities, biotechnology firms and research institutes.

Sometimes the link between a disease and an unusual gene variant is more subtle. The genetic architecture of common diseases is an important factor in determining the extent to which patterns of genetic variation influence group differences in health outcomes.[12][13][14] According to the common disease/common variant hypothesis, common variants present in the ancestral population before the dispersal of modern humans from Africa play an important role in human diseases.[15] Genetic variants associated with Alzheimer disease, deep venous thrombosis, Crohn disease, and type 2 diabetes appear to adhere to this model.[16] However, the generality of the model has not yet been established and, in some cases, is in doubt.[13][17][18] Some diseases, such as many common cancers, appear not to be well described by the common disease/common variant model.[19]

Another possibility is that common diseases arise in part through the action of combinations of variants that are individually rare.[20][21] Most of the disease-associated alleles discovered to date have been rare, and rare variants are more likely than common variants to be differentially distributed among groups distinguished by ancestry.[19][22] However, groups could harbor different, though perhaps overlapping, sets of rare variants, which would reduce contrasts between groups in the incidence of the disease.

The number of variants contributing to a disease and the interactions among those variants also could influence the distribution of diseases among groups. The difficulty that has been encountered in finding contributory alleles for complex diseases and in replicating positive associations suggests that many complex diseases involve numerous variants rather than a moderate number of alleles, and the influence of any given variant may depend in critical ways on the genetic and environmental background.[17][23][24][25] If many alleles are required to increase susceptibility to a disease, the odds are low that the necessary combination of alleles would become concentrated in a particular group purely through drift.[26]

One area in which population categories can be important considerations in genetics research is in controlling for confounding between population substructure, environmental exposures, and health outcomes. Association studies can produce spurious results if cases and controls have differing allele frequencies for genes that are not related to the disease being studied,[27] although the magnitude of this problem in genetic association studies is subject to debate.[28][29] Various methods have been developed to detect and account for population substructure,[30][31] but these methods can be difficult to apply in practice.[32]

Population substructure also can be used to advantage in genetic association studies. For example, populations that represent recent mixtures of geographically separated ancestral groups can exhibit longer-range linkage disequilibrium between susceptibility alleles and genetic markers than is the case for other populations.[33][34][35][36] Genetic studies can use this admixture linkage disequilibrium to search for disease alleles with fewer markers than would be needed otherwise. Association studies also can take advantage of the contrasting experiences of racial or ethnic groups, including migrant groups, to search for interactions between particular alleles and environmental factors that might influence health.[37][38]

Continue reading here:

Medical genetics – Wikipedia

Information about Genetic Testing | School of Medicine …

Even with the success of the Human Genome Project, there still isn’t a genetic test for every disease. A disease may run in a family and clearly be inherited, but the gene responsible may not be identified yet. Our team will see if there is a genetic test available for the condition running in your family.

If a test exists, we will find the best laboratory to use. Some laboratories offer clinical testing and must follow federal quality control standards. Clinical laboratories typically quote a fixed price and a standard return time for results.

Other laboratories offer research testing and are usually linked to academic centers and universities. They do testing at no cost in most cases. Often research laboratories do not provide results. If they do, it may take months or years to deliver results. Research test results should be confirmed in a clinical laboratory if medical management is based on the result.

Testing costs and turnaround times vary. Genetic test results are usually ready in three to four weeks. Though genetic testing costs are often paid for by insurance carriers, patients may be required to pay some or all of the cost when the test is ordered. When indicated we can write a letter of medical necessity explaining the benefits genetic testing might have for you. This can often increase the likelihood that your insurance company will pay for the testing.

Not everyone who has a genetic disease will have a mutation or a biochemical abnormality that shows up in testing. Because of this limitation, in a family it makes sense to first test someone who has had the disease in question.

If a genetic risk factor is found, ways of managing or preventing the disease due to that genetic risk can be discussed. Additionally, at-risk relatives can check their own status by testing for that specific risk factor. If that specific genetic risk factor is not found in an at-risk relative (i.e., they have a normal test result), he or she can be reassured. If the at-risk relative has a positive genetic test result, he or she has a greater chance of getting the condition. Relatives whose risk has been confirmed can start screening and prevention practices targeted for their genetic risk.

Sometimes testing a family member who has the disease isn’t possible. (The person may be dead, unavailable or unwilling to be tested.) Then, an unaffected person can take the test. Finding a genetic risk factor will certainly give useful information. But a normal test result doesn’t always mean there’s no risk. Many genes responsible for an inherited susceptibility are not yet known. In other words, a normal test result can exclude the genetic risk factors that have been tested but not the possibility of an inherited susceptibility. It may be valuable to test other family members.

If you were to have genetic testing it would be important to interpret your test results in light of your personal and family medical history. We will also identify family members who might benefit from genetic consultation and genetic testing. If necessary, we can provide referrals for relatives outside the Denver area.

If you test positive for a genetic condition, you can better understand how this condition arose in you and your relatives. If you do not yet have symptoms, you can start to plan for the future, such as planning for a family, career, and retirement. You might want to start seeing specialists to help manage the condition. Preventive actions may be useful as well. Drugs, diet and lifestyle changes may help prevent the disease improve treatment.

Close relatives might value having this information. They can go through testing themselves to determine their disease risks and the best treatment approach.

If you test negative for a genetic risk factor that is known to run in your family you may be relieved that a major risk factor has been excluded.

Diagnosing a genetic condition does not tell us how or when the disease will develop. Although DNA-based genetic testing is very accurate, there is a chance that an inherited mutation will be missed. If a mutation is not found, the test results cannot exclude the possibility of an inherited risk since there may be a mutation in another gene for which testing was not done. If you still have symptoms of a genetic condition, a normal test result might not get you ‘off the hook’. An inherited disease risk can only be excluded if a known mutation in the family has been excluded.

Family relationships may be affected by this information. If you have a genetic condition, other family members might benefit by also knowing. In the process of sharing your genetic risk information, family members may learn things about you that you do not want known. In addition, you may learn things about relatives that you did not want to know. For example, it may be revealed that a family member is adopted.

Some people find it hard to learn that they carry a gene that makes their risk of developing a disease greater. They may feel many emotions, including anger, fear about the future, anxiety about their health or guilt about passing a mutation on to their children. They may be shocked by the news. They may go through denial or a change in their self-esteem.

Knowing that you have a higher risk of getting a particular disease (when you don’t currently show symptoms) may affect your ability to be insured (health, life and disability). Several state and federal laws prohibit use of genetic information by health insurance companies. In general, health insurers cannot use this information as a pre-existing condition that could disqualify you when applying for new insurance. Genetic information cannot be used to raise premium payments or to deny coverage. However, these laws are not fully comprehensive and may not entirely prevent discrimination. You may want to contact your insurance company to see what effect, if any, genetic testing may have on your coverage.

Sometimes genetic test results are uninformative or ambiguous, making it difficult or impossible to say if a person has a higher risk. These ambiguous results can be the most difficult as they don’t provide a clear-cut answer.

For people with normal test results, where the genetic risk in the family has been excluded, a variety of emotions might occur. Most people feel tremendous relief. Others may feel survivor guilt, wondering why they were spared the risk. This can sometimes lead to changes in relationships between family members.

In some cases, an inherited risk for disease seems likely but the gene responsible has not yet been identified. The Adult Medical Genetics Program can help link families with researchers studying that disease. We can contact researchers for you and help you become part of the gene discovery studies. Although being part of research studies doesn’t always give you answers, it does allow you to contribute to science.

See more here:

Information about Genetic Testing | School of Medicine …

Genetic predisposition – Wikipedia

A genetic predisposition is a genetic characteristic which influences the possible phenotypic development of an individual organism within a species or population under the influence of environmental conditions. In medicine, genetic susceptibility to a disease refers to a genetic predisposition to a health problem,[1] which may eventually be triggered by particular environmental or lifestyle factors, such as tobacco smoking or diet. Genetic testing is able to identify individuals who are genetically predisposed to certain diseases.

Predisposition is the capacity we are born with to learn things such as language and concept of self. Negative environmental influences may block the predisposition (ability) we have to do some things. Behaviors displayed by animals can be influenced by genetic predispositions. Genetic predisposition towards certain human behaviors is scientifically investigated by attempts to identify patterns of human behavior that seem to be invariant over long periods of time and in very different cultures.

For example, philosopher Daniel Dennett has proposed that humans are genetically predisposed to have a theory of mind because there has been evolutionary selection for the human ability to adopt the intentional stance.[1] The intentional stance is a useful behavioral strategy by which humans assume that others have minds like their own. This assumption allows you to predict the behavior of others based on personal knowledge of what you would do.

In 1951, Hans Eysenck and Donald Prell published an experiment in which identical (monozygotic) and fraternal (dizygotic) twins, ages 11 and 12, were tested for neuroticism. It is described in detail in an article published in the Journal of Mental Science. in which Eysenck and Prell concluded that, “The factor of neuroticism is not a statistical artifact, but constitutes a biological unit which is inherited as a whole….neurotic Genetic predisposition is to a large extent hereditarily determined.”[2]

E. O. Wilson’s book on sociobiology and his book Consilience discuss the idea of genetic predisposition to behaviors

The field of evolutionary psychology explores the idea that certain behaviors have been selected for during the course of evolution.

The Genetic Information Nondiscrimination Act, which was signed into law by President Bush on May 21, 2008,[3] prohibits discrimination in employment and health insurance based on genetic information.

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Genetic predisposition – Wikipedia

About the Fred A. Litwin Family Centre in Genetic Medicine

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About the Fred A. Litwin Family Centre in Genetic Medicine

Genetic Counseling – School of Medicine | University of …

What does it mean to be a genetic counseling student?

At the University of South Carolina it means you become part of the team from day one: an engaged learner in our genetics center.You’ll have an experienced primary faculty who are open door mentors in your preparation for this career.

You’ll have access in the classroom and in the clinic to the geneticist and genetic counselor faculty in our clinical rotation network of nine genetic centers. The world of genetic counseling will unfold for you in two very busy years, preparing you to take on the dozens of roles open to genetic counselors today.

Rigorous coursework, community service, challenging clinical rotations and a research-based thesis will provide opportunity for tremendous professional growth.

We’ve been perfecting our curriculum formore than 30 years to connect the knowledge with the skills youll need as a genetic counselor. Our reputation for excellence is known at home and abroad. We carefully review more than 140 applications per year to select the eight students who will graduate from the School of Medicine Genetic Counseling Program. Our alumni are our proudest accomplishment and work in the best genetic centers throughout the country. They build on our foundation to achieve goals in clinical care, education, research and industry beyond what we imagined.

First in the Southeast and tenth in the nation, we are one of 39 accredited programs in the United States. We have graduatedmore than 250 genetic counselors, many of whom are leading the profession today.

During your time with us you’ll get hands-on experience through a wide range of clinical opportunities in prenatal, pediatric and adult settings as well as specialty clinics. International rotations are encouraged through our partners in the Transnational Alliance for Genetic Counseling.

Weve received highly acclaimed Commendations for Excellence from the South Carolina Commission of Higher Education. American Board of Genetic Counseling accreditation was achieved in 2000, reaccreditation in 2006 and, most recently, theAccreditation Council for Genetic Counselingreaccreditation was awarded, 2014-2022.

You’ll have the chance to form lifelong partnerships with our core and clinical rotation faculty. You can begin to build your professional network with geneticists and genetic counselors throughout the Southeast and across the nation.

One of our program’s greatest assets is our alumni. This dedicated group regularly teaches and mentors our students,serves on our advisory board, raises money for our endowment and enjoys the instant connection when meeting other USC Genetic Counseling graduates. As a student, you’ll benefit from the network of connections these alumni are ready to offer you. Check out our Facebook group.

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Genetic Counseling – School of Medicine | University of …

Genetic Modification in Medicine | gm.org

Posted by Ardent Editor on July 23rd, 2007

One of the most promising uses for genetic modification being eyed in the future is on the field of medicine. There are a number of advances already being done in the field of genetic modification that may be able to allow researchers to someday be able to develop a wide range of medicines that will be able to treat a variety of diseases that current medicines may not be able to.

There are many ways that genetic modification can be used in the development of new medicines in the future. One of them is in the production of some human therapeutic proteins which is used to treat a variety of diseases.

Current methods of producing these valuable human proteins are through human cell cultures but that can be very costly. Human proteins can also be purified from the blood, but the process always has the risk of contamination with diseases such as Hepatitis C and the dreaded AIDS. With genetic modification, these human proteins can be produced in the milk of transgenic animals such as sheep, cattle and goats. This way, human proteins can be produced in higher volumes at less cost.

Genetic modification can also be used in producing so-called nutriceuticals. Through this genetic modification can be used in producing milk from genetically modified animals in order to improve its nutritional qualities that may be needed by some special consumers such as those people who have an immune response to ordinary milk or are lactose intolerant. That is just one of the many uses that genetic modification may be able to help the field of medicine in trying to improve the quality of life.

Other ways of using genetic modification in the field of medicine concern organ transplants. In is a known fact to day that organ transplants are not that readily available since supply for healthy organs such as kidneys and hearts are so very scarce considering the demand for it. With the help of genetic modification, the demand for additional organs for possible transplants may be answered.

Genetic modification may be able to fill up the shortfall of human organs for transplants by using transgenic pigs in order to provide the supply of vital organs ideal for human transplants. The pigs can be genetically modified by adding a specific human protein that will be able to coat pig tissues and prevent the immediate rejection of the transplanted organs into humans.

Although genetic modification may have a bright future ahead, concerns still may overshadow its continuous development. There may still be ethical questions that may be brought up in the future concerning the practice of genetic modification. And such questions already have been brought up in genetically modified foods.

And such questions may still require answers that may help assure the public that the use of genetic modification in uplifting the human quality of life is sound as well as safe enough. Public acceptance will readily follow once such questions have been satisfactorily answered.

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Genetic Modification in Medicine | gm.org

Information about Genetic Testing | School of Medicine …

Even with the success of the Human Genome Project, there still isn’t a genetic test for every disease. A disease may run in a family and clearly be inherited, but the gene responsible may not be identified yet. Our team will see if there is a genetic test available for the condition running in your family.

If a test exists, we will find the best laboratory to use. Some laboratories offer clinical testing and must follow federal quality control standards. Clinical laboratories typically quote a fixed price and a standard return time for results.

Other laboratories offer research testing and are usually linked to academic centers and universities. They do testing at no cost in most cases. Often research laboratories do not provide results. If they do, it may take months or years to deliver results. Research test results should be confirmed in a clinical laboratory if medical management is based on the result.

Testing costs and turnaround times vary. Genetic test results are usually ready in three to four weeks. Though genetic testing costs are often paid for by insurance carriers, patients may be required to pay some or all of the cost when the test is ordered. When indicated we can write a letter of medical necessity explaining the benefits genetic testing might have for you. This can often increase the likelihood that your insurance company will pay for the testing.

Not everyone who has a genetic disease will have a mutation or a biochemical abnormality that shows up in testing. Because of this limitation, in a family it makes sense to first test someone who has had the disease in question.

If a genetic risk factor is found, ways of managing or preventing the disease due to that genetic risk can be discussed. Additionally, at-risk relatives can check their own status by testing for that specific risk factor. If that specific genetic risk factor is not found in an at-risk relative (i.e., they have a normal test result), he or she can be reassured. If the at-risk relative has a positive genetic test result, he or she has a greater chance of getting the condition. Relatives whose risk has been confirmed can start screening and prevention practices targeted for their genetic risk.

Sometimes testing a family member who has the disease isn’t possible. (The person may be dead, unavailable or unwilling to be tested.) Then, an unaffected person can take the test. Finding a genetic risk factor will certainly give useful information. But a normal test result doesn’t always mean there’s no risk. Many genes responsible for an inherited susceptibility are not yet known. In other words, a normal test result can exclude the genetic risk factors that have been tested but not the possibility of an inherited susceptibility. It may be valuable to test other family members.

If you were to have genetic testing it would be important to interpret your test results in light of your personal and family medical history. We will also identify family members who might benefit from genetic consultation and genetic testing. If necessary, we can provide referrals for relatives outside the Denver area.

If you test positive for a genetic condition, you can better understand how this condition arose in you and your relatives. If you do not yet have symptoms, you can start to plan for the future, such as planning for a family, career, and retirement. You might want to start seeing specialists to help manage the condition. Preventive actions may be useful as well. Drugs, diet and lifestyle changes may help prevent the disease improve treatment.

Close relatives might value having this information. They can go through testing themselves to determine their disease risks and the best treatment approach.

If you test negative for a genetic risk factor that is known to run in your family you may be relieved that a major risk factor has been excluded.

Diagnosing a genetic condition does not tell us how or when the disease will develop. Although DNA-based genetic testing is very accurate, there is a chance that an inherited mutation will be missed. If a mutation is not found, the test results cannot exclude the possibility of an inherited risk since there may be a mutation in another gene for which testing was not done. If you still have symptoms of a genetic condition, a normal test result might not get you ‘off the hook’. An inherited disease risk can only be excluded if a known mutation in the family has been excluded.

Family relationships may be affected by this information. If you have a genetic condition, other family members might benefit by also knowing. In the process of sharing your genetic risk information, family members may learn things about you that you do not want known. In addition, you may learn things about relatives that you did not want to know. For example, it may be revealed that a family member is adopted.

Some people find it hard to learn that they carry a gene that makes their risk of developing a disease greater. They may feel many emotions, including anger, fear about the future, anxiety about their health or guilt about passing a mutation on to their children. They may be shocked by the news. They may go through denial or a change in their self-esteem.

Knowing that you have a higher risk of getting a particular disease (when you don’t currently show symptoms) may affect your ability to be insured (health, life and disability). Several state and federal laws prohibit use of genetic information by health insurance companies. In general, health insurers cannot use this information as a pre-existing condition that could disqualify you when applying for new insurance. Genetic information cannot be used to raise premium payments or to deny coverage. However, these laws are not fully comprehensive and may not entirely prevent discrimination. You may want to contact your insurance company to see what effect, if any, genetic testing may have on your coverage.

Sometimes genetic test results are uninformative or ambiguous, making it difficult or impossible to say if a person has a higher risk. These ambiguous results can be the most difficult as they don’t provide a clear-cut answer.

For people with normal test results, where the genetic risk in the family has been excluded, a variety of emotions might occur. Most people feel tremendous relief. Others may feel survivor guilt, wondering why they were spared the risk. This can sometimes lead to changes in relationships between family members.

In some cases, an inherited risk for disease seems likely but the gene responsible has not yet been identified. The Adult Medical Genetics Program can help link families with researchers studying that disease. We can contact researchers for you and help you become part of the gene discovery studies. Although being part of research studies doesn’t always give you answers, it does allow you to contribute to science.

View original post here:

Information about Genetic Testing | School of Medicine …

Genetic Risk, Adherence to a Healthy Lifestyle, and …

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Genetic Risk, Adherence to a Healthy Lifestyle, and …