Uses and Precautions of Genomic Medicine | Endocrinology

Genomic medicine

What is genomic medicine?

Genomic medicine is the study of our genes (DNA) and their communication with our health. Genomics investigates how a person’s biological info can be used to improve their clinical care and health outcomes (for example, through real diagnosis and personalized treatment.

While genetics looks at exact genes or groups of ‘letters’ along the DNA chain, genomics refers to the study of a person’s whole genetic makeup. It is about how they tell and react to each other and is associated with conditions that have a wider variety of triggers, such as diabetes, heart disease, cancer, and asthma.

How is genomics used in medicine?

Diagnosis: For example, when the cause of a variety of symptoms cannot be identified by any other means. Prenatal tests are done during pregnancy, either for screening (in case something is wrong with the baby) or when there is already a family history. Helps parents make informed decisions and plans for the future.

When there is a family history of serious genetic disorders, you can tell prospective parents whether they are carriers or not and if they can pass it on to their children. You can also tell someone if you are likely to develop the inherited condition later in life, even if you don’t have any symptoms yet.

To assess risk: A person’s genetic makeup can show their susceptibility to certain diseases, such as heart disease, stroke, and cancer. Maybe they have high cholesterol levels or have vein problems. Possessing this knowledge means that they can achieve risk through medication, medical intervention, or by making positive existence changes.

Advances in genomic medicine

Several notable advances or achievements in genomic medicine are described below. However, further study of these issues beyond that provided in these summaries is warranted.

Precision medicine: The ultimate goal of precision medicine is that instead of a “one size fits all” approach by disease type, medicine will be based on a genetic understanding of the disease. Precision medicine not only involves studying the genome, but it also considers factors such as where a person lives, what they do, and what their family health history is.

The goal is to develop specific prevention or treatment approaches to help specific people stay healthy or get better rather than relying on approaches that are the same for everyone.

Precautions of genomic medicine

There are many aspects of genomic medicine that society must consider. For example, if a genomic medicine causes a disease with no known treatment, does it make sense to test people for that mutation before they develop symptoms? Also, some mutations cause an increased risk of disease, but that increased risk is very small compared to the risks of other factors such as diet and exercise.

Does it make sense to screen people for these kinds of changes when the change may not cause harm? How should this information be used? It is illegal for health insurance companies and employers to use genetic information to limit eligibility, set premiums, or discriminate against people without symptoms.

What is genetic counselling?

There are several types of service providers. In the UK, for example, the National Health Service employs 90 consultant clinical geneticists in 25 centres. They are supported by hundreds of specifically trained staff.5 Referral is usually done through a general practitioner (GP or family doctor) and is available to those concerned about a serious genetic family condition or a family tendency to develop cancer, or for parents of a child with learning disabilities and other developmental problems seeking expert evaluation.

In places where a public service is not available, or for those who choose to seek private healthcare treatment, check that the clinic you are using has the necessary registration (for example in the UK this is through the Care Commission for Quality, also known as CQC6) and the laboratory is also duly accredited.

Whatever the setting, the appointment may take some time and you may need to bring other members of your family with you. Your medical and family history will be mapped and explored, and you will likely have a medical exam as well. Finding out that there may be a life-changing or limiting condition in your future is a serious and, for some, traumatic experience.

Along with counselling, you may be offered tests (including blood tests), with the option to have them done the same day or, if you need time to think about the possible implications, come back at a later date. Results can take weeks or even months to recover (depending on the rarity of the genetic abnormality and how easy it is to find), but the results of prenatal tests will be returned much sooner.

Aftercare depends on the results and the nature of the test. Some people will be referred back to their family doctor along with all the details, or they can continue to receive treatment in a specialized unit. Those without symptoms will receive support and advice on lifestyle changes to minimize their risk, and advice on how to manage their possible condition in the future.

Several private companies offer genetic testing by mail. It involves taking a cheek swab or a blood sample at a local clinic. Then it is sent to the laboratory. The types of things that are tested include genetic risk for diabetes and heart conditions, as well as information about ancestry. Some companies provide more services than others, with counsellors or other healthcare professionals available to help. Convenient (but not necessarily cheap), it should be remembered that this is genetic testing without the usual level of holistic support found in established clinics.

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