Prokhoda Polina, Carroll Joseph
School of Medicine, Medical College of Wisconsin (MCW), Milwaukee, WI, USA.
Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin (MCW), Milwaukee, WI, USA.
J Med Access. 2025 Sep 1;9:27550834251371501. doi: 10.1177/27550834251371501. eCollection 2025 Jan-Dec.
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.
Our study aims to understand gaps in access to genetic testing, vision care, and community resources for patients with albinism.
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.
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.
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.
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.
巴西和西非此前的研究表明，白化病患者会感到受到歧视和孤立，这凸显了获得医疗保健和支持对改善他们生活质量的重要性。美国尚缺乏相关研究。
我们的研究旨在了解白化病患者在获得基因检测、视力保健和社区资源方面存在的差距。
在白化病与色素减退全国组织（NOAH）网站上、威斯康星医学院的现场研究会议期间分发了一份调查问卷，或通过电子邮件发送给之前的研究参与者。
多项选择题和开放式问题旨在评估资源获取、基因检测和视力健康情况。对数据进行了去识别化处理并进行分析。
在2022年6月至2023年4月期间共收到47份回复。约62%基于自身情况，38%基于儿童情况；66%的参与者为女性，32%为男性，2%为跨性别者。年龄、地点、家庭收入和教育水平分布广泛。近85%的参与者有医疗保险，其中15%为医疗保险/医疗补助。约64%的人进行了基因检测，其中40%的人平均要前往459英里（5 - 1700英里，中位数：150英里，平均数：459英里）才能进行检测。约34%的人觉得他们关于白化病的问题没有得到充分解答，原因包括医生未回答问题、使用23&me检测试剂盒、未咨询遗传咨询师或基因检测结果不确定等。近83%的人觉得他们对自己的视力健康有很好的了解。约60%的人知晓与改善视力健康相关的生活质量的社区资源，但只有45%的人利用了这些资源。
虽然在我们的调查人群中看眼科医生的机会充足，但基因检测的可及性有待加强，对社区资源的认知也有待提高。眼科医生和初级保健医生可以为此提供帮助。
