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Advances in science and technology are significantly changing modern health care. Physicians are now able to use new technologies to diagnose genetic predispositions to health risks and proactively help their patients manage their health. A genetic predisposition is an increased likelihood or chance of developing a particular disease based on a person’s genetic makeup. It results from specific genetic variations that are often inherited from a parent and/or a family history that indicates an increased health risk. Genetic variations can have large or small influences on the likelihood of developing a particular disease. However, the risks from genetic predispositions can be reduced if they are detected early.

The World Health Organization recommends that early detection of serious health risks greatly increases the chances for successful treatment. There has been observed increases in mortality rates due to late diagnoses because treatment becomes more difficult, less effective, and survival chance lowers with late detection. Due to the importance of early detection, the U.S. Food and Drug Administration (FDA) has just approved the first direct-to-consumer test that reports three gene mutations for breast, ovarian or prostate cancer. However, the self-kit test should not be used to substitute seeing your doctor for cancer screenings or counseling on genetic and lifestyle factors that can increase or decrease cancer risk.

Although these technological advancements are increasing early detection, intervention and treatment of genetic risks, physicians need to be able to clearly communicate to patients the benefits, limitations and risks related to genetic predispositions. According to the American College of Obstetricians and Gynecologists (ACOG), physicians should not just inform patients about their genetic predispositions, but also how these genetic risks might affect their insurance. Patients should also be strongly encouraged to share the serious genetic risk results with affected or at-risk family members, and also provide referrals for counseling and care if needed.

However, early diagnosis does not come without its challenges especially for patients who do not possess the information required to alleviate the anxiety from genetic test results. Like any other health intervention, tests for genetic health risks can have both good and bad influences on consumers. The information from genetic test results – positive, negative, or inconclusive – can trigger fear and lead to unnecessary harm. Hence, consumers need to be aware that genetic tests are not always conclusive for predicting the severity of health risks. The Mayo Clinic encourages patients to talk with their doctors, medical geneticists or genetic counselors about questions or concerns concerning genetic health predispositions.

If a genetic result is worrisome and triggering fear, then there is a need to seek extra help from genetic counselors or through the physician’s referral. Results from self-kit tests might become even more worrying if you are planning for pregnancy, during pregnancy, caring for children or managing overall wellbeing. For example, genetic predisposition related to breast cancer is significant to a woman because the breast is very symbolic to women’s identity and/or motherhood, it can stimulate a lot of fear and threat to overall wellbeing. Physicians need to be well informed of these psychosocial challenges and assist women in understanding the benefits of communicating the risks to their families when necessary.

For more information about testing for genetic risks see the following websites: www.cancer.gov; www.cdc.gov; www.mayoclinic.org.

Adebanke Loveth Adebayo

Writing since April 2019 · 1 story contributed