by Phyllis Hanlon, Contributing Writer

Genetic testing is becoming more common for patients with certain medical conditions. For instance, cardiologists now refer patients more frequently for genetic testing to find out if they are at risk for an underlying heart condition. Although practice guidelines suggest that pulmonologists and others who treat patients with pulmonary arterial hypertension (PAH) offer genetic testing for certain PAH patients, it is unknown how many specialists do. A team of researchers from several large health systems collaborated on the creation of a survey to determine how much PAH specialists know about genetic testing, their perceptions regarding genetic testing and how often they refer patients.  (

The American College of Chest Physicians recommends genetic testing and counseling for patients with heritable PAH (HPAH) and idiopathic PAH (IPAH), as well as for their family members. For the last 12 years, France has been offering genetic services in its clinics to patients with PAH and pulmonary veno-occlusive disease (PVOD).

According to William C. Nichols, PhD, one of the authors of this study, upwards of 20 percent of patients diagnosed with IPAH have a “known risk gene,” and should be diagnosed with HPAH. Dr. Nichols was awarded more than $10 million by the National Institutes of Health (NIH) to study genetics in PAH in at least 3,000 individuals through a project called the PAH Biobank at a PHA-accredited Center of Comprehensive Care (CCC), Cincinnati Children’s Hospital Medical Center. He notes that screening, testing and counseling before symptoms appear could offer some important benefits. First, identifying the disease earlier could lead to earlier treatment to slow progression of the disease in at-risk individuals shown to carry a genetic mutation. Also, individuals who have a better understanding of their risk for developing PAH can make better-informed decisions around family planning and avoid taking certain drugs associated with PAH.

This survey involved 223 medical specialists, most from the United States who attended PHA’s 2014 International PH Conference and Scientific Sessions in Indianapolis. They responded to a 32-question survey. Results showed that, while only 13.2 percent felt that they knew enough about the process, 27.4 percent of respondents demonstrated adequate knowledge about genetic testing as measured by answering three of four genetic questions correctly. Furthermore, nearly 80 percent of respondents said they never or rarely refer patients with PAH for genetic testing, although in some cases there were valid reasons. Clinicians explained that many insurance companies do not cover the cost of testing, a primary reason for not making the recommendation. But the study authors pointed out that today some commercial labs provide genetic testing and accept insurance or Medicare. In some cases these labs offer discounts for those without insurance.

The survey respondents also said they often failed to recommend genetic testing because no facilities and/or counselors were available in their practice areas. Furthermore, approximately 25 percent of survey respondents admitted they do not recommend genetic testing because they do not believe it is necessary or warranted. However, if a patient requested a referral for genetic testing and counseling, specialists responded positively.

Dr. Nichols and his colleagues suggested that as specialists become “…more knowledgeable about the genetics of PAH and the genetic services available, it might lead to a better standard practice of care.”

Additionally, the study authors admit that more research is necessary before any real progress can be made regarding specific therapies for PAH that are genetic based. They wrote, “We are still learning about the different mutations that exist in at least seven genes associated with the development of PAH, as well as discovering new genes and genetic associations/interactions.”  They asserted though that when more genetic services are available, pulmonologists and other PAH specialists will need to have more knowledge about PAH genetics in order to provide the best care for their patients.

“Through the efforts of many research labs in the US and around the world, our understanding of PAH genetics is increasing thanks to the participation of the large numbers of patients in our studies,” said Dr. Nichols. “As our understanding of PAH genetic susceptibility increases, we are confident that physicians and other caregivers will begin to incorporate genetic services and testing into PAH treatment on a more widespread, regular basis, such that it becomes part of the standard practice of care for the disease.”


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