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Genetic Support Foundation Aims to Offer Independent Testing Info to Patients, Healthcare Providers


NEW YORK (GenomeWeb) – In a world of rapidly growing and ever more complex health-related DNA tests, the Genetic Support Foundation, a nonprofit organization founded in 2014 in Wisconsin, aims to educate patients and healthcare providers about genetic testing options by providing unbiased up-to-date information in the form of written materials and videos. In addition, the organization offers independent genetic counseling and test utilization management services.

Last month, GSF and the Washington State Department of Health released seven short educational videos for pregnant women who are weighing their prenatal genetic testing options.

The videos, which are available from the health department's website as well as from GSF's website, last about four minutes each and address how to decide about prenatal genetic testing, what conditions are commonly tested for in pregnancy, and various prenatal testing methods, including prenatal cell-free DNA screening, maternal serum screening, prenatal ultrasound, amniocentesis, and chorionic villus sampling.

The videos, which were funded by the health department, were made with recent guidelines from the American College of Obstetricians and Gynecologists and the Society of Maternal-Fetal Medicine in mind: In May, ACOG and SMFM published two new practice bulletins in Obstetrics and Gynecology, one on prenatal diagnostic testing for genetic disorders, the other on screening for fetal aneuploidy.

In addition, to educate patients with positive prenatal test results, GSF recently posted three videos about specific genetic conditions on its website that were produced by patient advocacy organizations — on Down syndrome, Turner syndrome, and 1p36 deletion syndrome.

Through its work, the foundation aims to fill a void in a time of rapidly growing genetic testing menus in several areas of medicine.

"Our goal is to provide information that's independent of the testing companies," Katie Stoll, director of program development at GSF, told GenomeWeb. With new genetic tests coming online almost every day, there is already a lot of information available, but "there is a challenge in sorting out what's marketing and what's really going to be beneficial for patients," she said. "We are seeing a lot of confusion and misunderstandings about new testing technologies, and part of our mission is to try and provide information that's without that bias."

With noninvasive prenatal testing, for example, now often referred to as prenatal cell-free DNA screening, she and her colleagues saw that many patients had no clear idea of the potential benefits and drawbacks, and most of the information available online came from test providers with a financial interest. "We just saw a real need to develop something that was independent of those marketing materials," she said.

For example, many of the NIPT companies initially stressed the accuracy of their tests, making it sound as though they were diagnostic rather than screening tests. "A lot of the marketing language had very strong emphasis on accuracy, and a lack of discussion of the potential limitations of the testing," Stoll said.

The goal of GSF's videos on prenatal testing is "to help increase education, and hopefully, support more informed choices for women who are considering all of the different options," she said.

While other organizations are also developing educational materials for prenatal genetic testing — for instance, Stoll said she is aware of a project by the American Society of Human Genetics — GSF is particularly focused on the patient perspective.

GSF was founded by Jon Wolff, a clinician and scientist at the University of Wisconsin-Madison School of Medicine. Wolff, who is GSF's president and also co-founded biotech company MirusBio, "had this vision for many years to try and start a nonprofit to provide education outreach regarding genetics," Stoll said.

The foundation has two full-time and two part-time genetic counselors on staff, and is funded through a mix of contracts, clinical services, and donations.

Initially, it focused on developing educational content and tools — its first video, about cell-free DNA testing in pregnancy, appeared a year ago, and it has web content related to cancer genetic testing. Going forward, GSF plans to develop educational content in other areas, for example in personalized genomics, where "there is a lot of interest and need in terms of helping people make sense of the information," Stoll said.

Earlier this year, GSF also started offering clinical services, at first largely in Washington, where it provides organizations with independent genetic counseling services and offers telehealth services in communities underserved by genetic counselors.

"That's another area where we're trying to provide services that are independent of the testing labs," Stoll said, adding that many commercial laboratories have hired their own genetic counselors. A big focus of GSF's clinical services is hereditary cancer risk testing, she said, a growing area.

Besides providing clinical services and educational material, GSF also offers test utilization management, she said, through reviewing genetic testing requests, analyzing data, and supporting best practices.