Survey of genetic testing, community involvement, and vision care in Albinism.

Background: Previous studies from Brazil and West Africa have shown that patients with albinism can feel stigmatized and isolated, highlighting the importance of access to healthcare and support in improving their quality of life. Studies in the United States are lacking.

Objectives: Our study aims to understand gaps in access to genetic testing, vision care, and community resources for patients with albinism.

Design: A survey was distributed on the National Organization for Albinism and Hypopigmentation (NOAH) website and during in-person research sessions at the Medical College of Wisconsin or emailed to previous research participants.

Methods: Multiple choice and open-ended questions were aimed at assessing access to resources, genetic testing, and vision health. The data were de-identified and analyzed.

Results: A total of 47 responses were received between June 2022 and April 2023. Around 62% were based on self and 38% based on child; 66% of participants were women, 32% men, and 2% transgender. There was a wide distribution of age, location, household income, and education level. Almost 85% of participants had medical insurance, including 15% Medicare/Medicaid. Around 64% had genetic testing done, of those 40% had to travel an average of 459 miles (5-1700 miles, Mdn: 150 miles, M: 459 miles) to access it. About 34% felt their questions about albinism were not fully answered, for reasons such as questions not answered by their physician, using a 23&me kit, not seeing a genetic counselor, or genetic results that were inconclusive. Almost 83% felt they had good understanding of their visual health. Around 60% were aware of community resources related to improving quality of life related to visual health, but only 45% utilized them.

Conclusion: While access to eye doctors is adequate in our surveyed population, access to genetic testing could be strengthened and awareness of community resources could be improved upon. This could be facilitated by eye doctors and primary care physicians.