2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-The Impact of No-Cost Testing Programs for Inherited Retinal Degeneration on Post-Testing Follow-up Genetic Services

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The study examines the impact of sponsored genetic testing programs on the uptake of genetic testing and follow-up care for patients with inherited retinal degeneration (IRD). IRDs are a group of conditions with over 250 causative genes identified. Molecular diagnosis is crucial for patient eligibility in gene-specific investigational therapies. However, the cost and lack of insurance coverage are barriers to accessing diagnostic testing.<br /><br />Sponsored genetic testing programs aim to remove the financial obstacle for patients by covering the testing cost. In return, the third party, such as a biopharmaceutical company, receives access to patients' genetic data. The first sponsored testing program for IRDs started in 2016, and by 2019, two programs were available.<br /><br />The study reviewed the clinical and genetic data of patients with IRDs evaluated in the Mass Eye and Ear Inherited Retinal Disorders (IRD) Service from January 2019 to December 2021. The data showed that the availability of sponsored testing programs increased the uptake of genetic testing. There was a statistically significant increase in the number of patients pursuing testing and follow-up care after the introduction of sponsored programs.<br /><br />In addition to an increase in testing uptake, there were accompanying changes in clinical genetics follow-up practices. There was an increasing trend of patients pursuing carrier testing for partners, referrals to outside specialists, and genetic counseling conversations. More patients were being referred to the IRD specialty clinic with previous diagnostic testing, and there was a higher demand for genetic counseling services to understand the results.<br /><br />Overall, the study suggests that sponsored genetic testing programs not only improve access to diagnostic testing but also impact the follow-up care and genetic services provided to patients with IRDs.

Asset Subtitle

Presenting Author - Kaitlin O'Connell, MS, CGC; Co-Author - John S. Borchert, MS; Co-Author - Jason Comander, MD, PhD; Co-Author - Rachel Huckfeldt, MD, PhD; Co-Author - Eric Pierce, MD, PhD; Co-Author - Emily Place, MS;

Meta Tag

Counseling

Eye disorders

Genetic Testing

Co-Author John S. Borchert, MS

Co-Author Jason Comander, MD, PhD

Co-Author Rachel Huckfeldt, MD, PhD

Co-Author Eric Pierce, MD, PhD

Co-Author Emily Place, MS

Presenting Author Kaitlin O'Connell, MS, CGC

Keywords

genetic testing