Genetic testing is often considered to explain the cause of PAH, to identify if other family members are at risk, and to determine the risk of PAH in future children. The most commonly cited reason for genetic testing for PAH is to provide information to children. Preimplantation genetic diagnosis has been used to avoid passing on the PAH gene to children once the familial mutation was identified, especially in families with childhood-onset PAH.
Genetic testing identifies a genetic mutation in approximately 75% of PAH patients with a family history of PAH, most commonly in the gene BMPR2. A mutation is identified in approximately 20% of idiopathic PAH patients, even when there is no family history of PAH. Clinical genetic testing generally takes 4-8 weeks for results. Once the mutation in a family is known, testing other family members for a family-specific mutation is relatively inexpensive, accurate, and fast. Within a family, not everyone with the genetic risk will develop PAH. For BMPR2 carriers, approximately 35% of women will develop PAH over a lifetime, but only about 18% of men will develop PAH. Genetic testing is most helpful when it can identify members of the family who are not genetically at risk for PAH, and who don’t need to be screened for development of PAH. For at-risk family members, regular screening by echocardiogram every 3 years and awareness of disease symptoms enables early diagnosis and treatment, which may improve outcomes.
There are sometimes concerns about discrimination or loss of insurance. For symptomatic individuals, there should be no concerns about genetic discrimination since any discrimination would be based upon a PAH diagnosis, not the genetic basis of the PAH. Asymptomatic individuals are protected under the Genetic Information Non-Discrimination Act (GINA) from having their health insurance access or rates changed based on genetic test results. However, GINA does not provide protection against discrimination in life, disability, or long-term care insurance, although such discrimination has rarely been documented based on genetic testing information alone.
Discuss with your PH physician and consider referral to a genetic counselor.
