Genetics is a rapidly evolving field, one in which new genes are identified, genetic variants are uncovered, and gene associations with hereditary diseases and predispositions are being made on a near daily basis.
As genetics is becoming a more basic and universal part of health care, individuals might wonder how best to harness the potential of this field to better manage their own health.
My advice is a three-step approach:
- Focus on what area of your health is concerning to you
- Determine what resources are available to help you gain additional information in this area
- Take action
Focus on what area of your health is most concerning to you
Are you concerned about a personal history of high cholesterol, a family history of cancer, or the results of a prenatal genetic screening test?
While genetics is its own speciality, there are multiple areas of medicine that concentrate on an even more precise area of interest. Examples include cancer, cardiac, neurology, adult, pediatrics, reproductive and prenatal. Just as you would not see a cardiologist if you were having issues with knee pain, you would not talk with a cancer genetic counselor if you were concerned that your child’s developmental delay was due to an underlying genetic condition.
Determine what resources are available to help you gain additional information on this area
Yes, the internet can offer a wealth of information. You’re on it right now, aren’t you? But as those Pinterest baking fails we know and love have shown, sometimes certain issues are best left to the experts.
These experts are called geneticists and genetic counselors; these are health care professionals with advanced training in medical genetics to assist patients on how inherited conditions may impact them or their families. They are available to discuss appropriate genetic testing options based on your personal and family history and to interpret genetic test results.
Thankfully, access to these experts has never been easier. In 2020, millions of people participated in virtual visits with their health care providers. Driven by the COVID-19 pandemic, indications are that many patients appreciate the convenience and safety of virtual care visits. Telehealth is a particularly good fit for genetic services, as patient information can be collected and reviewed ahead of time and physical examinations are generally not a necessary component of the visit. Telegenetics is becoming the new normal, offering rapid access, flexible solutions and clinical guidance. How does it work? Find out here.
Another resource is your own medical records, as accurate answers to the questions below will assist your genetic professional in better serving you and your health care needs.
- What have you/your child/your relative been diagnosed with?
- Who made the diagnosis?
- When was the diagnosis made?
- How was the diagnosis made?
- What are the specific signs and symptoms you/your child/your relative are experiencing?
- When did they start?
- Was it a gradual onset or sudden?
- Was there a specific trigger that you can associate with them?
- What tests have been done?
- When were they done?
- Why were they done?
- What were the results?
- What specialists have been involved so far (if any)?
- Have you/your child/your relative pursued genetic testing in the past?
Finally, your family may prove to be another excellent resource. Knowing more about your family health history can empower you to take better control of your own health, and the health of those you love. A Guide On Talking With Your Family About Family Health History details not only who in your family to talk with but also what conditions to ask about/information to gather.
In a recent TedTalk Daily entitled “How to turn grit into a lifelong habit - An interview with Angela Duckwork”, the speaker advised, “Just do something.” This may involve talking with family members as mentioned above, making an appointment with a genetics professional to discuss your concern, or reflecting on your personal feelings/beliefs about whether you feel genetic testing could be a good fit for you.
Should you jump right into genetic testing? No.
Pursuing genetic knowledge is a process made up of many small steps, both physical and mental. The first few steps are outlined above. Yet, depending on if you elect to pursue genetic testing and the results of that testing, your work may not be done once your results are in hand, as they may impact the health and medical management of your family members. If your genetic test result is negative, there is less of an urgency to share with family members. If, on the other hand, you test positive for a genetic variant associated with an increased risk for a genetic condition, you have a responsibility to share this information with children, siblings, parents and, even in the best of circumstances, with aunts, uncles and cousins.