Once difficult and expensive even for the most technologically advanced labs, genetic testing is fast becoming a cheap and easy consumer product. With a little spit and 200 dollars, you can find out your risk for everything from cystic fibrosis to lactose intolerance.
But its important to remember that not all genetic tests are created equal. And even the best clinical genetic test, carried out in a medical lab under a doctor's supervision, isn't perfectgenes are important, but they don't seal your fate.
Genetic tests are diagnostic, so anyone who is curious about their health can get one done. But they're more informative if you think you might be at risk for a genetic disorder.
Heavy-duty genetic tests have been used as a clinical tool for almost half a centurylong before 23andMe and Ancestry.com began offering direct-to-consumer tests. Lets say that many women in your family have had breast cancer. You can get a genetic test to see if you may have inherited an abnormal version of the BRCA gene, known to increase your risk for breast cancer.
Heidi Rehm, associate professor of pathology at Harvard Medical School, is the director of the Laboratory for Molecular Medicine, where patients get tested for diseases that can be traced to specific genetic roots. She says it is most common for people to get tested when they either suspect or know that they have a genetic disease; it may have affected multiple people in their family or they could show symptoms of something widely known to be genetic, like sickle cell anemia. For these people, genetic tests can provide a much-needed explanation for an illness and help doctors determine the best course of treatment. Babies are often tested for genetic diseases, either while they are still fetuses or shortly after birth.
Others get genetic tests if they and their partner both have family histories of an inherited diseaseeven if they dont have the disease themselves. For example, cystic fibrosis is linked to one particular gene, but you have to inherit the abnormal version of the gene from both your parents to get the disease. If you only inherit one copy, you may never knowyou wont display any of the symptoms. But if you and your partner both carry one copy of the faulty gene, your child could still inherit two copies. Genetic tests can forewarn you of that possibility.
But Rehm says there has been a recent trend of healthy people getting tested to predict whether theyll get certain diseases. I do think there are settings where predictive genetic testing is incredibly important and useful, Rehm says; for example, knowing that youre at risk for breast cancer gives you the opportunity for early intervention (remember when Angelina Jolie got a double mastectomy upon finding out she had a mutated BRCA gene?)
But Rehm also points out that genetic tests may not be as straightforward as they seem. For example, some genes are thought to increase risk of getting a certain disease, but it might only happen if you have specific family history, or you might be able to reduce your risk with lifestyle changes. So remember that a genetic test isnt the final verdictthere are other factors at play too.
Not entirelyits scope is limited. For starters, not all diseases are caused by genes. Plenty of conditions stem from environmental and lifestyle factors; they may interact with your genes, but the external factors are the real trigger.
But even if a disease is caused solely by faulty instructions written in your genes, you wont necessarily be able to test for it. Thats because genetic tests are mainly used for diseases that are penetrant, a term that scientists use to describe a strong connection between having a certain gene (or multiple genes) and getting a disease.
Genetic tests are surprisingly simple on the surface. All thats required of you is a small sample of cells, like a blood sample or saliva (which doesnt have DNA itself, but picks up cheek cells during its journey out of your mouth). It get sent to a lab where sequencing machines match up small pieces of synthetic DNA with your DNA to figure out the overall sequence.
Once they have your sequence, geneticists can compare it with "normal" or disease-causing sequences. In the end, they might give you a yes or no answer, or sometimes youll get a probabilitya measure of how much your genes increase your risk of developing the disease. Then, its up to your doctor to figure out what these genes (in combination with your lifestyle, family history and other risk factors) mean for your health.
With penetrant diseases, theres a very, very high ability to explain the disease, Rehm says. For example, the breast cancer-related gene BRCA1 can give you a 60 percent chance of getting breast cancer (in Jolies case, with her family history, the risk was 87 percent.)
This makes genetic tests better at detecting so-called rare diseases, says Steven Schrodi, associate research scientist at the Marshfield Clinic Research Institutes Center for Human Genetics, but theyre less useful when it comes to more common diseases, like heart disease or diabetes. Genetics can increase your likelihood of getting these disease, but scientists still dont know quite how much. Part of the problem is that there may be dozens or hundreds of genes responsible for these diseases, Schrodi says.
We have an incomplete understanding of why people get diseases, Schrodi says. A large part of it hinges on how we define diseases. Perhaps physicians have inadvertently combined multiple diseases together into a single entity.
Consumer genetic teststhe ones where you send in samples from homesometimes claim to test for these more complex traits, but be careful: Their results might not be very medically relevant, Rehm says. If they tell you that your genes make you twice as likely to develop diabetes, for example, that's a marginal increase that doesn't significantly affect your risk, especially when you take into account lifestyle factors.
Genes do seem to play a role in determining lifespan. After all, some family reunions stretch from great-great-grandparents all the way down to infants. Scientists have studied centenarianspeople who lived to be 100 years oldand found that people with certain versions of genes involved in repairing DNA tend to live longer.
This makes sense because aging leaves its mark on your DNA. Environmental factors can damage DNA, and even the routine chore of replicating cells can introduce errors as the three billion units of your DNA are copied over and over. Long-lived individuals have different sequences that seem to make their cells better at keeping DNA in mint condition.
But figuring out your expiration date is more complex than just testing for a few genes, says Jan Vijg, professor of genetics at Albert Einstein College of Medicine. In theory, you could design a test that looks at specific genes that might measure your risk for developing Alzheimers Disease or other age-related diseases, or your risk for aging quickly. To some extent, yes: Biomarkers will tell you something about your chances of living a long life, Vijg says. Still, that will only work if you live a careful life. And that means no accidents, infections, or cancers.
Aging also affects the exposed ends of your DNA, called "telomeres." DNA is stored as chromosomes, those X-like structures that you may have seen in biology textbooks. The most vulnerable parts of the chromosome are the chromosomes tips, which get shorter as you age because they arent properly replicated. But while telomere length might let you compare your DNA now with your DNA from a decade ago, you cant compare your own telomeres with other peoples telomeres. Theres a lot of variation between individuals, Vijg says. Some of us are just old souls (on the genomic level, that is.)
The methylation test, which looks at how the presence of small chemical groups attached to your DNA changes as you age, might be a better bet. A study at UCLA showed that changes were slower in longer-lived people. But Vijg is hesitant: I would not put my hopes on that as a marker to predict when exactly youre going to die.
For now, just enjoy your life, because you cant predict death. And if you decide to unlock the secrets of your DNA with an at-home test, don't take those results for more than their worth.
Original post:
What can genetic testing really tell you? - Popular Science
- BENITEC BIOPHARMA INC. Management's Discussion and Analysis of Financial Condition and Results of Operations (form 10-Q) - Marketscreener.com - February 13th, 2023 [February 13th, 2023]
- CENTOGENE to Participate in Upcoming Conferences in February in the Lead Up to Rare Disease Day - Marketscreener.com - February 7th, 2023 [February 7th, 2023]
- Gene | Definition, Structure, Expression, & Facts | Britannica - January 27th, 2023 [January 27th, 2023]
- New gene therapy delivers treatment directly to brain - January 27th, 2023 [January 27th, 2023]
- Indian Pharma Congress: Gene-cell therapy, preventive medicine future of health care, says expert - Economic Times - January 25th, 2023 [January 25th, 2023]
- A blood test that identifies people at higher risk of miscarriage? Thats the goal of this award-winning Rutgers med student. - The Philadelphia... - January 19th, 2023 [January 19th, 2023]
- Gene Therapy: Genes As Medicine | Pfizer - January 6th, 2023 [January 6th, 2023]
- How Genomics will ensure a risk-free and beneficial treatment for good health and well-being - The Financial Express - December 28th, 2022 [December 28th, 2022]
- Regenerative Medicine Advanced Therapy Designation | FDA - December 18th, 2022 [December 18th, 2022]
- 3576 - Gene ResultCXCL8 C-X-C motif chemokine ligand 8 [ (human)] - November 23rd, 2022 [November 23rd, 2022]
- Study identifies new gene that drives colon cancer - EurekAlert - October 17th, 2022 [October 17th, 2022]
- Updated Stroke Gene Panels: Rapid evolution of knowledge on monogenic causes of stroke | European Journal of Human Genetics - Nature.com - October 17th, 2022 [October 17th, 2022]
- The challenges of translating CRISPR to the clinic - Labiotech.eu - October 17th, 2022 [October 17th, 2022]
- Editas Medicine Presents Preclinical Data on EDIT-103 for Rhodopsin-associated Autosomal Dominant Retinitis Pigmentosa at the European Society of Gene... - October 17th, 2022 [October 17th, 2022]
- 'We have to find a way': FDA seeks solutions to aid bespoke gene therapy - BioPharma Dive - October 17th, 2022 [October 17th, 2022]
- Mathematical model could bring us closer to effective stem cell therapies - Michigan Medicine - October 17th, 2022 [October 17th, 2022]
- Approval, Commercialization Highlighted at Cell & Gene Meeting on the Mesa - Genetic Engineering & Biotechnology News - October 17th, 2022 [October 17th, 2022]
- CANbridge-UMass Chan Medical School Gene Therapy Research in Oral Presentation at the European Society of Gene and Cell Therapy (ESGCT) 29th Annual... - October 17th, 2022 [October 17th, 2022]
- Depression Treatment: How Genetic Testing Can Help Find the Right Medication - Dunya News - October 17th, 2022 [October 17th, 2022]
- The Risk-Reward Proposition for CGT Clinical Trials - Applied Clinical Trials Online - October 17th, 2022 [October 17th, 2022]
- Precision Medicine Could Get Even More Precise With Allarity Therapeutics Next-Generation Diagnostics - Benzinga - October 17th, 2022 [October 17th, 2022]
- Decibel Therapeutics Receives FDA Clearance of IND Application for DB-OTO, a Gene Therapy Product Candidate Designed to Provide Hearing to Individuals... - October 17th, 2022 [October 17th, 2022]
- Time for your medicine: unlocking the power of our body clocks - The Guardian - October 17th, 2022 [October 17th, 2022]
- Replay establishes distinguished Scientific Advisory Board of genomic medicine and cell therapy experts - Yahoo Finance - October 17th, 2022 [October 17th, 2022]
- Scientists Reappraise the Role of Zombie Cells That Anti-aging Medicine Has Sought to Eliminate - Neuroscience News - October 17th, 2022 [October 17th, 2022]
- Forge Biologics Announces Updated Positive Clinical Data in RESKUE, a Novel Phase 1/2 Gene Therapy Trial for Patients with Krabbe Disease - Business... - October 17th, 2022 [October 17th, 2022]
- Gene Expression Signatures Are Analyzed for Biomarkers of Response in HCC - Targeted Oncology - October 17th, 2022 [October 17th, 2022]
- NHS England World-first national genetic testing service to deliver rapid life-saving checks for babies and kids - NHS England - October 17th, 2022 [October 17th, 2022]
- The proteinprotein relationship that could mend a broken heart - RegMedNet - October 17th, 2022 [October 17th, 2022]
- Study finds microprotein correlated to Alzheimers risk - Daily Trojan Online - October 11th, 2022 [October 11th, 2022]
- Passage Bio Announces Appointment of William Chou, M.D. as Chief Executive Officer - Yahoo Finance - October 11th, 2022 [October 11th, 2022]
- Gene Therapy Rapidly Improves Night Vision in Adults with Congenital Blindness - Newswise - October 11th, 2022 [October 11th, 2022]
- Scientists Discover Protein Partners that Could Heal Heart Muscle | Newsroom - UNC Health and UNC School of Medicine - October 11th, 2022 [October 11th, 2022]
- The Pros and Cons of Lentiviral and Adeno-Associated Viral Vectors - The Medicine Maker - October 11th, 2022 [October 11th, 2022]
- Insights & Outcomes: Foreign DNA, quantum potholes and relapsing fever - Yale News - October 11th, 2022 [October 11th, 2022]
- Expediting IND applications with drug master files - BioPharma Dive - October 11th, 2022 [October 11th, 2022]
- UNC School of Medicine Awarded $3 Million to Lead Study to Reduce PTSD Frequency, Severity | Newsroom - UNC Health and UNC School of Medicine - October 11th, 2022 [October 11th, 2022]
- Lineage to Present at Alliance for Regenerative Medicine 2022 Cell & Gene Meeting on the Mesa - businesswire.com - October 8th, 2022 [October 8th, 2022]
- The Next Crispr Gene Editing IPO Could Be Near - Henry Herald - October 8th, 2022 [October 8th, 2022]
- 10-year CRISPR anniversary: How gene editing revolutionized medicine, and what lies ahead - Genetic Literacy Project - October 8th, 2022 [October 8th, 2022]
- Blood from a baby at birth can be gene sequenced to prevent diseases - USA TODAY - October 8th, 2022 [October 8th, 2022]
- What doctors wish patients knew about breast-cancer prevention - American Medical Association - October 8th, 2022 [October 8th, 2022]
- Growth in Cell and Gene Therapy Market - Pharmaceutical Technology Magazine - October 8th, 2022 [October 8th, 2022]
- Gene Editing Service Market 2022 : Top Players to Reflect Impressive Growth Rate till 2029: Caribou Biosciences, CRISPR Therapeutics, Merck KGaA,... - October 8th, 2022 [October 8th, 2022]
- Tip Sheet: $78 million to support new precision oncology institute, update on experimental gene therapy for herpes and the launch of Fred Hutch's new... - October 8th, 2022 [October 8th, 2022]
- Cell and Gene Therapy: Rewriting the Future of Medicine - Technology Networks - October 2nd, 2022 [October 2nd, 2022]
- Growth in Cell and Gene Therapy Market - BioPharm International - October 2nd, 2022 [October 2nd, 2022]
- CRISPR Therapeutics Announces FDA Regenerative Medicine Advanced Therapy (RMAT) Designation Granted to CTX130 for the Treatment of Cutaneous T-Cell... - October 2nd, 2022 [October 2nd, 2022]
- BioMarin Resubmits Biologics License Application (BLA) for Valoctocogene Roxaparvovec AAV Gene Therapy for Severe Hemophilia A to the FDA - PR... - October 2nd, 2022 [October 2nd, 2022]
- Fighting Breast and Ovarian Cancer With a Lupus Antibody - Yale School of Medicine - October 2nd, 2022 [October 2nd, 2022]
- This gene therapy company is testing new tech to 'switch off' diabetes and obesity with a pill - Euronews - October 2nd, 2022 [October 2nd, 2022]
- Tenaya Therapeutics to Participate in Inaugural Hypertrophic Cardiomyopathy Medical Societys 2022 Scientific Sessions - Yahoo Finance - October 2nd, 2022 [October 2nd, 2022]
- Risk of Alzheimer's dementia may be predicted with help of new tool Washington University School of Medicine in St. Louis - Washington University... - October 2nd, 2022 [October 2nd, 2022]
- Tiny Sea Creature's Genes Shed Light on Evolution of Immunity - UPMC - October 2nd, 2022 [October 2nd, 2022]
- Who will get the call from Stockholm? It's time for STAT's 2022 Nobel Prize predictions - STAT - October 2nd, 2022 [October 2nd, 2022]
- Excision BioTherapeutics Awarded California Institute for Regenerative Medicine (CIRM) Grant to Support Ongoing Phase 1/2 Trial Evaluating EBT-101 as... - October 2nd, 2022 [October 2nd, 2022]
- NeuroVoices: Emma Ciafaloni, MD, on the Vast Expansion of Innovative Approaches to Duchenne Muscular Dystrophy - Neurology Live - October 2nd, 2022 [October 2nd, 2022]
- COVID mRNA Jabs and Testing Kicked Off This Industry of Drug Development: Here's What You Need to Know - The Epoch Times - October 2nd, 2022 [October 2nd, 2022]
- Kidney resident macrophages have distinct subpopulations and occupy distinct microenvironments - University of Alabama at Birmingham - October 2nd, 2022 [October 2nd, 2022]
- Nobel Prize for medicine: the full list of winners - The National - October 2nd, 2022 [October 2nd, 2022]
- The surprising link between circadian disruption and cancer may have to do with temperature - EurekAlert - October 2nd, 2022 [October 2nd, 2022]
- The global live cell imaging market is expected to grow at a CAGR of 8.44% during 2022-2027 - Yahoo Finance - October 2nd, 2022 [October 2nd, 2022]
- Chroma Medicine Announces Formation of Scientific Advisory Board of Global Experts in Gene Editing and Cell and Gene Therapy - PR Newswire - September 20th, 2022 [September 20th, 2022]
- Ring Therapeutics Announces Issuance of U.S. Patent for its Anellovector Compositions - Yahoo Finance - September 20th, 2022 [September 20th, 2022]
- Cholesterol gene mutation: Why would a healthy 27-year-old have severe heart problems? - 69News WFMZ-TV - September 20th, 2022 [September 20th, 2022]
- Gene Therapy for Severe Hemophilia B Could Be More Cost Effective Than Current Treatments - Managed Healthcare Executive - September 20th, 2022 [September 20th, 2022]
- AVROBIO Receives Rare Pediatric Disease Designation from U.S. Food and Drug Administration (FDA) for First Gene Therapy in Development for Cystinosis... - September 20th, 2022 [September 20th, 2022]
- The Biggest CGT Breakthroughs Through the Eyes of Our 2022 Power List - The Medicine Maker - September 20th, 2022 [September 20th, 2022]
- Leading Virus Researcher to Chair UVA's Department of Microbiology, Immunology and Cancer Biology - UVA Health Newsroom - September 20th, 2022 [September 20th, 2022]
- Work remains on Tay-Sachs and other Ashkenazi genetic disorders J. - The Jewish News of Northern California - September 20th, 2022 [September 20th, 2022]
- Study Shows Genetic Link to Moving to the Beat of Music - Newswise - September 20th, 2022 [September 20th, 2022]
- Viewpoint: In the post Roe v Wade world, what changes should a biology textbook writer make to address the medical repercussions of Dobbs? - Genetic... - September 20th, 2022 [September 20th, 2022]
- Alnylam Receives Approval in Europe for AMVUTTRA (vutrisiran) for the Treatment of Hereditary Transthyretin-mediated (hATTR) Amyloidosis in Adult... - September 20th, 2022 [September 20th, 2022]
- CSL flexes gene therapy muscle with latest drug - Sydney Morning Herald - September 20th, 2022 [September 20th, 2022]
- The MIT Press releases new book on the science of the heart from cardiac expert Dr. Sian Harding - EurekAlert - September 20th, 2022 [September 20th, 2022]
- Global Pharmaceutical Contract Manufacturing Market is projected to reach a market value of US$329.7 Billion in 2032: Visiongain Reports Ltd - Yahoo... - September 20th, 2022 [September 20th, 2022]
- Alzheon Reports Industry-Leading Biomarker, Brain Preservation and Clinical Effects Following 12 Months of Treatment in Phase 2 Trial of Oral ALZ-801... - September 20th, 2022 [September 20th, 2022]
- Do You Have Lung Cancer With An EGFR Mutation? If So, The Drug Tagrisso Might Be Right For You Based On New Results From A 'Practice Changing' Trial -... - September 20th, 2022 [September 20th, 2022]
- Getting rid of unwanted transformed cells: Possible new directions in cancer therapy - EurekAlert - September 20th, 2022 [September 20th, 2022]
- Sven Kili on reconvening with the ISCT - The Medicine Maker - September 14th, 2022 [September 14th, 2022]