As we plan for holidays with family and friends, many are reminded to avoid religion and politics as topics of conversation, and while it may be advisable to skip these, there is another potentially uncomfortable topic that I urge everyone to bring up: family health history. Though it may not seem palatable to discuss diabetes and heart disease over servings of pumpkin pie, these conversations can be critical in helping relatives make better-informed decisions about their healthcare and lifestyle choices.
While many associate family health history with reproductive health or cancer, the field of genetics has evolved into an integral aspect of many medical specialties. Genetic counseling services have grown most rapidly in the areas of cancer and cardiac disease, where identifying hereditary risks empowers patients to take steps to catch disease at earlier, potentially more treatable stages, or prevent it altogether. But genetics is also relevant to neurological, psychiatric, and ocular diseases, as well as a long list of inherited conditions. Over the past 20 years, we have seen an exponential increase of available genetic tests. In the early 1990s there were less than 300 tests, and by the end of 2012 there were nearly 3,000 genetic tests available to the public.
Professional genetic counselors provide the essential services of determining who is a candidate for genetic testing, which tests are appropriate, and what steps should be taken once test results are known. Counselors rely as much as possible on accurate health history provided by their patients, which makes these sometimes difficult family conversations necessary. The holidays present an excellent opportunity to explain to relatives that sharing health information can potentially lead to better medical outcomes for all.
There will likely be challenges, as learning about hereditary risks can cause anxiety, and older generations especially may prefer avoiding these discussions. But for those who persevere and are successful, the benefits can be life-changing.
Ideally genetics involves studying the entire family picture. This includes parents, siblings, and even children (first-degree relatives); aunts, uncles, grandparents, and half-siblings (second-degree relatives); and cousins, great aunts and uncles, great-grandparents (third-degree relatives). Some of this may not be attainable, of course. I advise people to do the best they can, because an incomplete health history is preferable to no health history.
As far as what questions to ask, it is helpful to know about any major or chronic health conditions, the treatment, and outcome. Note which relative had or has the condition, the age at diagnosis, any others in the family who had the same, and what the outcome was. For deceased relatives, ask how old they were when they died, as well as cause of death. It may seem simple, but I also advise asking relatives about ethnicity and country of origin, because that isn’t always well understood, and some hereditary conditions are more common among some groups. Lastly, information about healthy relatives can be an important factor in the genetic risk assessment process, so talk with relatives who have not had major medical conditions.
We look forward to the holidays as a time of happiness, and using time with family constructively for the benefit of all can lead to happier, healthier lives.
Rebecca Sutphen is president and chief medical officer, InformedDNA.