Scientists and doctors have been studying genes and hereditary conditions (those handed down from parent to child) for many years. These days, it's possible for someone to have a genetic test for a number of illnesses. A blood sample is taken and closely examined for abnormal chromosomes, but because so much information is stored on the DNA, scientists only tend to look for particular disorders.
Genomic medicine is the field of study that looks into genes (our DNA) and their interaction with our health. Genomics investigates the complex biological details of an individual and the use of these for effective diagnosis and tailor-made treatment.
While genetics looks at specific genes or groups of 'letters' along the DNA strand, genomics refers to the study of someone's entire genetic makeup. It's about how they relate and react with each other and is associated with conditions that have a broader range of triggers such as diabetes, heart disease, cancer and asthma.
Genomic medicine can help in many ways:
This greater understanding of the links between biology and disease brings benefits on several levels.
There are a number of types of service provider. In the U.K., for example, the National Health Service employs 90 consultant clinical geneticists at 25 centres. They're supported by hundreds of specifically trained staff.5 Referral is usually through a general practitioner (GP or family doctor) and is available to those who are worried about a serious genetic family condition or a family tendency towards developing cancer, or to parents of a child with learning difficulties and other developmental problems looking for an expert assessment.
In places where a public service isn't available, or for those who choose to seek private health care treatment, check to make sure that the clinic you're using has the necessary registration (for example, in the UK this is through the Care Quality Commission, also known as the CQC6) and the lab is also correctly accredited.
Whatever the setting, the appointment might take some time and you may need to bring other members of your family with you. Your family and medical history will be mapped and explored, and it's likely you'll have a medical examination too. Finding out that there may be a life-changing or life-limiting condition in your future is a serious and, for some, traumatic experience. Alongside counselling, you may be offered tests (including blood tests)with the option of having these done on the day or, if you need time to think about the possible implications, to come back at a later date.
Results can take weeks or even months to return (depending on the rarity of the genetic abnormality and how easy it is to find) but pre-natal test results will be returned much sooner.
Aftercare then depends on the results and the nature of what you're being tested for. Some people will be referred back to their family doctor along with full details, or they may go on to receive treatment at a specialist unit. Those who are aren't showing symptoms will be given support and advice about lifestyle changes, in order to minimise their risk, and advice about managing their potential condition in the future.
There are also a number of private companies who offer genetic testing by mail. It involves having a cheek swab or a blood sample taken at a local clinic. It's then sent off to the laboratory. The kinds of things tested for include genetic risk for diabetes and heart conditions, as well as ancestry information. Some companies deliver more of a service than others, with counsellors or other health professionals on hand to help. Convenient (but not necessarily cheap), it must be remembered that this is genetic testing without the usual level of holistic support found in established clinics.
The broad area known as genomic medicine is evolving the study of genetic mutation pathways and their variations is particularly exciting. But what does this mean for people on a practical level? As discussed earlier, there are some hereditary diseases that are difficult to diagnose simply because of the wide range of genes involved.
Scientists are working towards finding a chemical or genetic bottleneck for conditions like these. The ability to switch off a vital reaction along the pathway from genetic trigger to hay fever, dust allergy, or asthma, for example, would aid diagnosis and treatment, and possibly whether or not these traits need cause misery for the next generation.7
The emerging field of epigenetics takes this idea one step further. It's based on the concept that each gene has its own chemical tag that tells the gene how to act. It is possible to turn the gene off (make it dormant) or turn it on (make it active) according to its chemical tag. In this way, the genetic code remains the same but the way in which it is expressed changes.8
This is a very exciting development. If things such as what we eat and drink and how much we sleep affect the way our genetic code manifests itself, what are the implications for disease and ageing? The times when genes are switched from a healthy, normal state into one that causes disease and the end of life?
These chemical modifications can also be passed on to the next generation, creating a more variable level to genetic inheritance. In other words, your lifestyle choices can affect your childs health in a negative or positive way on a basic, biological level.
Advances in genomic medicine mean that more diseases, both rare and more common, can be diagnosed and treated than ever before. But there are a few things to consider:
By understanding that which is already written down in our genetic code, we can predict and manage what happens in the future. New advances in genomic medicine create an environment where we can make sound health care plans, seek advice, and get treatment in the vital early stages of disease.
On a personal level, this doesn't stop at us the principles behind epigenetics suggest that our everyday habits what we eat and whether we smoke can have a positive or negative effect on our grandchildren's biology, meaning that our genetic legacy is also well worth taking care of. At Aetna International, we may cover gene testing on a case by case basis, for example if an oncologist needs to determine the most suitable treatment for a member with cancer.
Read our article: How genetic information can support your familys health: a guide.
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