The article focuses on the motivation for and the impact of HCM genetic testing on family members. The 32 participants in the study all encouraged family members to undergo genetic testing with the hope that the knowledge gained would benefit family members down the line. However, the study found that the psychological impact of a positive result, in the absence of overt disease, was highly variable. Some gene positive individuals perceived that they had an absolute risk of developing HCM, with substantial detriment to their lifestyle choices, while others were not at all affected by the result and made no lifestyle changes.
The article suggests that the silent gene carriers who do best understand that while they carry the gene, they do not have the disease.
The authors advise genetic counselors to provide clear guidelines to gene positive patients regarding the future implications of their test results, including sports participation, lifestyle choices, family planning and impact on obtaining health and life insurance, along with detailed explanations of what HCM-related symptoms might look like, to be reported to their cardiologist.
It is important to recognize that the implications of having a positive HCM genetic status can and will change over time. For a HCM gene-carrying teenager, the primary concern may be whether they can join the track team. When the teen has matured into their 20s and 30s, the primary concern may be about marriage, procreation and child-bearing. Choice of career may be another concern that carries into middle age.
Ideally, a silent gene-carrier of HCM will have continued access to genetic counseling as they age, so they will be able to benefit from the most up-to-date research on HCM as they make lifestyle choices, when the issues are actually relevant and at the forefront of their lives.
For some quotes from one of the study’s authors, Dr. Carissa Bonner, click here.