Sage Journals: Discover world-class research

Abstract

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.

Keywords

Vision care ophthalmology albinism public health genetic testing community organization

Background

Inherited retinal diseases affect more than 2 million people worldwide and diagnosis can be difficult to establish based on exam and symptoms alone, which necessitates molecular genetic testing.¹ Since the development of the human genome project, genetic testing has become more widely utilized.^2,3 New therapeutic approaches are emerging due to recent advancements in our understanding of the mechanisms leading to vision loss in inherited retinal diseases, elevating the importance of accurate genetic diagnoses for individual patients.⁴

Albinism is a rare genetic disease that affects the pigmentation of skin, hair, and eyes with a prevalence of 1/18,000 in the United States.^5,6 It is caused by a mutation in genes that are responsible for production or transport of melanin.⁷ Symptoms include reduced vision, nystagmus, strabismus, and increased risk of skin cancer.^7–10 While some forms of albinism are clearly visible when looking at an individual, others such as the X-linked ocular form caused by GPR143 mutations cause visual symptoms but present with normal or near-normal skin and hair color.¹¹ Ocular albinism requires genetic testing (though female carrier status can be detected using fundus autofluorescence) to diagnose and even in oculocutaneous albinism, the presence of hypomorphic alleles may complicate the diagnosis and require thorough genetic testing.¹²

Objectives

The purpose of this study was to develop a survey to better understand gaps in access that individuals with albinism may face in relation to genetic testing, their visual health, and community resources. Several studies have looked at the relationship of public health and albinism in regions of West Africa and Brazil,^7,13 but studies in the United States are lacking. The Brazilian study concluded that “irrespective of geographic location, patients with albinism can feel stigmatized and isolated. Initiatives to raise awareness of albinism are extremely important in all places worldwide” and “quality of life of patients can be markedly improved with access to health, support, and adequate guidance.”⁷ Motivating our study, previous work has shown that when people understand their own medical problems and have access to resources, it improves their quality of life and lowers their disease severity.¹⁴

Design

The study was approved by the Medical College of Wisconsin (MCW) Institutional Review Board (PRO 40631). We worked with the CTSI of Southeast Wisconsin Biomedical Informatics Core, which was used as a central location for data processing and management. REDCap (Research Electronic Data Capture) was used for data collection.¹⁵ REDCap projects rely on a thorough, study-specific data dictionary defined in an iterative self-documenting process by all members of the research team with planning assistance from the CTSI Biomedical Informatics Key Function.

For individuals who had participated in research at the Eye Institute of MCW and had agreed to further correspondence, an informational letter/email was sent. The letter/email provided a summary of the project and a link to the REDCap survey. Survey information was also posted on the National Organization for Albinism and Hypopigmentation (NOAH) website. The posting provided a summary of the project and a link to the REDCap survey. If a potential participant was interested and clicked the link, they were taken to the first page of the survey, which included more detailed information about the project. After reviewing this information, they were prompted to click “Continue” to proceed with the survey only if they (1) were over 18 years old, (2) understood that participation was voluntary, and (3) understood that results would be used for research purposes. We do not know which method ultimately recruited each responder.

Methods

The first few questions of the accessibility survey (Supplemental Document 1) asked about the individual or any other family members having albinism and how this influenced their access to care. Because albinism is a genetically inherited condition, it is likely that having a family member with albinism caused the patient to be more informed about their own medical condition and influenced both their understanding of their health and their access to care.

The next set of questions were aimed at assessing whether the patient sees an eye care provider, the specific kind of eye care provider, how often they see them, and time elapsed between first visual symptoms and being seen in the clinic. These questions told us about both access to vision care and timeliness of care, as timeliness of care can often be representative of access or lack thereof. Timeliness is an aspect of access to health care according to the Agency for Healthcare Research and Quality and previous studies have shown that timeliness of care was reduced for adults with public insurance compared to adults with private insurance, and that uninsured adults were less likely than adults with private insurance to receive needed and timely care for an illness, injury, or condition.¹⁶

The next few questions were about seeing a genetic counselor and about the participant’s ability to receive and access genetic testing. Based on the 2015 U.S. National Health Interview Survey, disparities in genetic testing access were greatest in the Hispanic population, non-citizens, uninsured individuals, and individuals with less education.¹⁷ Because the Advanced Ocular Imaging Program (AOIP) at MCW and other research laboratories provide no-cost genetic testing that may be beneficial to patient’s understanding of their medical conditions and better treatment options, it is important to know if these individuals could easily have access to free genetic testing otherwise. If we find that many research study participants have easy access to genetic testing, it may be beneficial for both the patients and the generalizability of our study to increase our recruitment to be more inclusive of individuals who may otherwise not have access to free genetic testing. Previous research has shown that 25% of children who needed genetic services did not have access to them¹⁸ and that children from high income families were twice as likely to receive genetic services.¹⁹

The next few questions asked about self-reported understanding of medical diagnoses. This provided insight into health literacy of the patients and whether more needs to be done by medical providers to educate and advertise resources to improve health literacy. Previous studies have shown that low health literacy remains a significant public health challenge, which contributes to both health disparities and social determinants of health.²⁰ Populations that are at risk of low health literacy are also the ones that are most at risk for health disparities in chronic diseases.²¹ Furthermore, this 2019 study concluded that health literacy is one of the few contributors to health disparities where individual-level intervention may produce a strong effect.

The next question asked about perceived quality of care to understand if patients perceived their care as validating and complete, as this directly relates to their satisfaction with medical care.²²

The next questions were about access and involvement in local organizations that may improve quality of life and provide resources for dealing with the patient’s visual conditions. If our study shows that a lot of individuals are not aware of such resources and are not involved with them, future efforts can be aimed at providing individuals with more information about how to get involved with local and nationwide resources (such as NOAH) and how these resources may help with improving vision-related quality of life. There are several organizations that provide resources, education, and classes on improving quality of life for patients with vision deficits, which could benefit patients immensely.

Standard demographics questions were chosen to better understand the population being surveyed and make our survey more generalizable. Understanding demographics that may relate to the aspects of visual care being studied will allow us to implement improvements that will be more likely to reach the populations that lack access and resources. Access to genetic testing could improve understanding of disease and create more treatment options. Perceived quality of care and frequent visits to eye doctors may influence quality of life and vision problem severity. Resources in the community are there to improve the lives of patients, but this only works if the patients know about them and can utilize them. Knowing more about these aspects of visual care for patients with albinism may allow for future improvements in health care and quality of life.

Data were collected from June 2022 until April 2023. The data were de-identified, exported as an excel sheet, and summarized with descriptive statistics. For the relationship between demographics with genetic testing and demographics with awareness of community resources, Fisher’s exact test was used to calculate the p value, which is the probability that the observed differences in groups are due to chance. A p value less than 0.05 was considered statistically significant. We have followed the EQUATOR STROBE guideline (Supplemental Document 2) for reports of observational studies.²³

Results

Demographics

Of 47 unique responses, 62% were based on self and 38% based on child or minor. 66% of participants were women, 32% men, and 2% transgender. About 34% of participants were 0–17 years old (completed by adult on their behalf), 4% were 18–25 years old, 34% were 26–40 years old, 21% were 41–65 years old, 2% 66–80 years old, and 4% were 81+ years old. Participants were 81% White, 11% Black or African American, 4% Asian, and 4% Multiracial. The primary language in the home was 91% English, 2% Hindi, and 2% Xhosa. Annual household income varied greatly with 6% making less than $25k per year, 9% making $25–49k, 21% making $50–74k, 11% making $75–100k, 15% making $100–150k, 11% making $150–200k, 6% making $200k+. Almost 85% of participants had medical insurance, including 13% Medicare/Medicaid. About 11% of responders were uninsured. Of note, some individuals chose not to disclose certain answers, resulting in percentages that may not add up to 100%. These demographics are elaborated in Table 1.

Table 1.

Summary of Demographics.

Profile	Demographic factor	Sub-category	Number	Percentage
Survey responders (n = 47)	Gender identity	Male	15	32%
		Female	31	66%
		Transgender	1	2%
	Age	0–17 years old	16	34%
		18–25 years old	2	4%
		26–40 years old	16	34%
		41–65 years old	10	21%
		66–80 years old	1	2%
		81+ years old	2	4%
	Race	White	38	81%
		Black or African American	5	11%
		Asian	2	4%
		Other (multiracial)	2	4%
	Primary language spoken at home	English	43	91%
		Hindi	1	2%
		Xhosa	1	2%
	Annual household income	<$25k	3	6%
		$25–49k	4	9%
		$50–74k	10	21%
		$75–100k	5	11%
		$100–150k	7	15%
		$150–200k	5	11%
		$200k +	3	6%
		Did not disclose	10	21%
	Insurance	Private medical insurance	31	66%
		Insurance through family	3	6%
		Medicare/Medicaid	6	13%
		No medical insurance	5	11%
	Highest education level of person who survey responses are based on	Elementary school	6	13%
		Some high school	1	2%
		High school or GED	2	4%
		Some college	1	4%
		Associate’s degree	3	6%
		Bachelor’s degree	12	26%
		Master’s degree	16	34%
		Doctorate or higher	2	4%

Access to vision care

About 48% of survey responders felt that having a family member with albinism contributed to their own diagnosis and 41% felt that having a family member with albinism prompted them to see an eye care provider. All participants had seen an eye doctor at some point in their life, with 85% seeing an ophthalmologist and 49% seeing an optometrist. Almost 96% of participants first saw an eye doctor at ages 0–5 years old, 2% first saw an eye doctor at 6–10 years old, and 2% first saw an eye doctor at age 21+ years. As summarized in Figure 1, currently, 25% see an eye doctor every 6 months, 45% once per year, 28% once every 2 years, and 2% every 5 years. Almost 83% felt they had good understanding of their visual health, and 91% felt that their medical condition was fully worked up by their eye doctor.

Figure 1.

Seeing an Eye Care Provider.

Access to genetic testing

Around 62% had genetic testing done, of those 40% had to travel to access genetic testing (range: 5–1700 miles, Median: 150 miles, Mean: 459 miles). One individual indicated they got genetic testing done, but never received their results or followed up; they were counted as not having undergone genetic testing. Of the 38% who did not get genetic testing done, 28% cited lack of opportunity, 33% prohibitive cost, 6% geographic location, and 28% had no interest in getting tested. Obstacles to genetic testing are summarized in Figure 2. Some individuals chose multiple options and were counted for each category they selected. About 34% said that their genetic testing results were inconclusive. About 53% of participants had seen a genetic counselor to discuss albinism. They described their reasons for seeing a genetic counselor as 45% to better understand their medical condition, 15% family planning, and 4% as part of research. All individuals who answered that they were unaware of opportunities to get genetic testing had never seen a genetic counselor. Individuals described their reason for having genetic testing done as 33% ordered by a doctor as part of their medical workup, 17% ordered by a genetic counselor, 27% for personal understanding of their medical condition, 37% out of curiosity about their medical condition, and 10% for family planning reasons. The average year of having genetic testing done was 2014.8, with a range of 1990–2022, median of 2017.5 and mode of 2018. Almost 97% of the participants who completed genetic testing, received their results with 17% of results taking less than 1 month to receive, 48% taking 1–3 months, 7% taking 3–6 months, 10% taking 6 months to 1 year, and 17% taking more than 1 year. All individuals who answered that it took a year or more to receive their results, completed genetic testing as part of a research study. About 43% of participants said they decided to participate in a research study at least in part in order to receive genetic testing. About 28% of individuals who got genetic testing, did so through research study participation, with only one of those individuals being uninsured.

Figure 2.

Obstacles to Genetic Testing.

Almost 90% felt like their genetic testing results did not affect their care. About 55% spoke to a genetic counselor once they received their result. About 65% said their results were conclusive. Of those that did not, they described having only one genetic mutation, having uncommon genetic mutations, or their results not showing a genetic mutation. About 34% felt their questions were not fully answered after receiving their genetic results, with some of the following reasons given: their physician did not spend enough time to explain what the results meant, kits like 23&me or ancestry did not explain what results meant, or their results were inconclusive/the corresponding genetic mutation was not found. Of the people who felt like their questions were not fully answered, 40% had received genetic testing results they described as inconclusive and 70% did not meet with a genetic counselor after receiving their results. Of the 10 individuals that stated they did not feel like their questions were fully answered, 9 of them either received inconclusive results, did not see a genetic counselor after receiving the results, or both. However, 80% of responders who received an inconclusive genetic testing result, did meet with a genetic counselor after their testing.

Access to community resources

About 60% of participants stated they were aware of community resources related to improving quality of life related to visual health. About 45% said they were part of a community organization that could help improve their quality of life related to their visual health. As summarized in Figure 3, for the 55% that were not involved in these community organizations, they cited the following reasons: 58% were not aware of the opportunity to join, 27% said their geographic location prevents them from joining, 23% had no interest in joining, 15% had no time to join, 11% felt it was too expensive, 8% felt their vision deficits prevent them from joining, 4% decided or someone told them there was no benefit to getting involved, and 4% said they were reluctant to join. Almost 94% of participants said that if they were to learn more about these resources, they would be interested in joining.

Figure 3.

Obstacles to Joining Community Organizations that are Aimed at Improving Quality of Life Related to Visual Health.

Conclusion

Demographics

All survey participants were diagnosed with albinism or were filling out the survey on behalf of someone with albinism. About half had another family member who also had albinism. There was a wide distribution of ages, location, household income, marital status, and level of education, showing that despite the small size and time frame of this project, we were able to get a wide variety of individuals’ responses and that from these data we could extrapolate about the general US population with some limitations. However, the distribution of race was not as varied, with more than 80% of participants being white, even though albinism is more common in African American individuals in the United States.²⁴ A previous study in South Africa concluded that dark skinned individuals with albinism face stigma and othering due to myths and negative stereotypes.²⁵ There are no studies that have investigated this in the United States, but extrapolating the results of the study from South Africa, more research is needed to make conclusions about African Americans in the United States with albinism and their access, because the black experience with albinism seems to be inherently different from that of white individuals with albinism. Given the wide distribution of incomes in our cohort, it is difficult to draw conclusions regarding prevalence of poverty in the albino population. One 2024 study looked at cost-of-illness in inherited retinal diseases and concluded that non-health costs constituted 87%–98% of total costs for these individuals, specifically social support and services such as mobility training, occupational therapy, vision rehabilitation, assistive technology, and accessibility modifications could be contributing to diminished quality of life, poverty, and increased informal caregiving needs for individuals with IRDs.²⁶

Access to vision care

This population seems to have strong access to eye doctors, with most people seeing an eye doctor in the first 5 years of life and every few months to years currently. This population of patients also has a health insurance coverage of 85%, which is an improvement compared to the average US population, where only 50% of those aged 65 and older had at least one eye visit in any given year on Medicare, and only 7.3% of those aged 0–5 years, and 24.8% aged 6–17 years.²⁷ Most participants also responded that they have a good understanding of their care and feel that they were validated by their eye doctor, showing that this is not a major area of need in this population.

Access to genetic testing

There is room for improvement in access to genetic testing with 38% of responders not having undergone genetic testing. Of the individuals who did not get genetic testing done, 28% cited lack of opportunity and 33% high cost. Of the 5 individuals who cited not knowing where to get genetic testing, there was no discernable pattern among them with 40% being uninsured, and a variety of ages, highest degrees earned, and income ranges. Providing free or low-cost opportunities for more people to get genetic testing would be beneficial to this population. Location was a prohibitory reason for only one surveyed individual, who stated their geographic location prevents them from getting tested, showing this to be less of an obstacle. About 43% of our participants said that their decision to participate in research was at least in part to get genetic testing done, which shows that this is something patients are interested in and potentially otherwise do not have access to outside of a research study setting. Getting more advertising out to the general population about research studies that provide free genetic testing could be a good way to get more people access.

All individuals who answered that they were unaware of opportunities to get genetic testing had never seen a genetic counselor. This could indicate a strong reason to get a genetic counselor involved in the care of individuals with albinism, as this could help them be more aware of opportunities to get genetic testing, if that is something they are interested in. Primary care doctors, optometrists, and ophthalmologists who are seeing a patient with albinism should consider a referral to a genetic counselor for these individuals as part of their workup and diagnosis. Genetic testing is recommended by the American Academy of Ophthalmology and the European Reference Network for Rare Eye Diseases for all suspected or presumed IRDs with identified causative genes,^28,29 but most clinical ophthalmologists are unfamiliar with genomic diagnostics.¹ In one 2021 study, providers felt that genetic testing was useful in IRD management but was infrequently utilized with only 1.5% of individuals with IRDs having genetic testing ordered by their ophthalmologist.³⁰ The current structure around IRDs and genetic testing does not adequately meet demand due to lack of IRD specialists and ocular genetic counselors, people with IRDs being geographically isolated, and limits in global use of genetic testing.¹ These problems will need more national and international policy changes and overhaul of education for medical providers and genetic counselors in order to be addressed, but talking about these deficiencies is a start.

About 34% said that their genetic testing results were inconclusive. Most of the time, this is because there are still genes that we do not know of, which cause albinism, and a lot of responders specified that their results were inconclusive because only one genetic mutation linked to albinism was found. The diagnostic yield of genetic testing for albinism according to other studies has a wide range. It was found to be 66%³¹ and 91%³² compared to 50.8%³³ and 78%³² diagnostic yield for inherited retinal diseases overall. This means that in some individuals with albinism, genetic testing may not be diagnostic for their condition, potentially because they have a mutation that has not yet been linked to albinism. Foundation Fighting Blindness has a free program called “My Retina Tracker” that covers genetic testing for certain eligible inherited retinal disease diagnoses, but currently albinism is not eligible for the program.^34–36 Based on the results of our study, a similar program to cover genetic testing in albinism would be beneficial to this group of individuals, both to cover their genetic testing and to help researchers identify more genetic mutations linked to albinism. Interestingly, 90% of responders felt like their genetic results did not affect their care—this could be due to the fact that even when genetic results are inconclusive, individuals can often have their diagnosis confirmed through detailed phenotypic assessments of their vision and skin.

There also seemed to be an association between individuals responding that they felt their questions were not fully answered and not seeing a genetic counselor after receiving their genetic results, this was true for 70% of the individuals who gave that response. Almost 90% of the responders who said they did not feel like their questions were answered either did not see a genetic counselor to discuss results or had inconclusive results, or both. This shows that it may be beneficial for anyone who gets genetic testing done to meet with a genetic counselor as it may result in more individuals feeling like their questions were answered and concerns were heard. There was also a smaller correlation (40%) with receiving an inconclusive genetic testing result and participants saying they did not feel like their questions were answered. There is no good solution for this, as more research is done and more genetic mutations are found to be associated with albinism, the number of inconclusive genetic testing results should decrease. In this case, speaking with a genetic counselor may also be helpful to get more information. Of our survey responders, 80% of individuals who received an inconclusive result did see a genetic counselor afterwards, so this may be less of an urgent area of focus.

The average year of genetic testing was consistent with genetic testing becoming more frequent and accessible over time. All individuals who answered that it took 1+ years to get their results, completed genetic testing as part of a research study, showing that outside of this group, genetic testing results are received in a timely manner, so that should not be an obstacle to genetic testing. About 28% of individuals who got genetic testing did so as part of a research study and only one of those individuals was uninsured, showing that getting genetic testing for free through a research study may be a resource that individuals are not aware of. Based on Table 2, there did not seem to be a strong relationship between most demographics and getting genetic testing. However, a result that stood out was that 100% of individuals with income above 100–150k had genetic testing done, and the p value for the Fisher’s exact test evaluating income level and genetic testing reached significance at 0.0027, showing that this difference in income levels was unlikely to be due to chance. This result agrees with our finding that cost is one of the main prohibitive factors for getting genetic testing. Similarly, Fisher’s exact test for education level and likelihood of obtaining genetic testing was also statistically significant at 0.0139, which is likely due to certain education levels correlating with income. Based on Table 3, there did not seem to be any relationship between specific demographics and not seeing a genetic counselor to discuss genetic testing results.

Table 2.

Relationship Between Demographics and Genetic Testing.

Profile	Demographic Factor	Sub-category	Total number	Number who had genetic testing	Percent of total	Probability that observed difference in groups is due to chance
Completed genetic testing (n = 29)	Gender identity	Male	15	9	60%	p value = 1.000
		Female	31	19	61%
		Transgender	1	1	100%
	Age	0–17 years old	16	12	75%	p value = 0.5117
		18–25 years old	2	1	50%
		26–40 years old	16	10	63%
		41–65 years old	10	4	40%
		66–80 years old	1	1	100%
		81+ years old	2	1	50%
	Race	White	38	25	66%	p value =
		Black or African American	5	2	40%	0.3787
		Asian	2	1	50%
		Other (multiracial)	2	2	100%
	Primary language spoken at home	English	43	28	65%	p value = 0.1374
	Primary language spoken at home	Hindi	1	0	0%
		Xhosa	1	0	0%
	Annual household income	<$25k	3	1	33%	p value = 0.0027
	Annual household income	$25–49k	4	2	50%
		$50–74k	10	6	60%
		$75–100k	5	0	0%
		$100–150k	7	7	100%
		$150–200k	5	5	100%
		$200k+	3	3	100%
		Did not disclose	10	5	50%
	Insurance	Private medical insurance	31	20	65%	p value = 0.7517
		Insurance through family	3	1	33%
		Medicare/Medicaid	6	3	50%
		No medical insurance	5	3	60%
	Highest education level of person who survey responses are based on	Elementary school	6	5	83%	p value = 0.0139
		Some high school	1	1	100%
		High school or GED	2	0	0%
		Some college	1	0	0%
		Associate’s degree	3	2	67%
		Bachelor’s degree	12	5	42%
		Master’s degree	16	13	81%
		Doctorate or higher	2	0	0%

Table 3.

Characteristics of Individuals Who Did Not See a Genetic Counselor (n = 13).

Gender	Age	Race	Income	Insurance	Highest education level
77% Women	54% 26–40 years old	77% White	38% $100–149k	69% Private insurance	46% Master’s degree
23% Men	15% 0–17 years old	15% Black	15% $50–74k	15% Medicare/Medicaid	23% Bachelor’s degree
	23% 45–60 years old	8% Asian	15% $150–200k	8% Uninsured	15% Associates degree
	8% 81+ years old		8% < $25k		8% Some high school
					8% Elementary school

Access to community resources

About 58% of participants reported being unaware of community resources to improve their quality of life related to visual health, and 94% said that if they were to learn more about these resources they would want to get involved. This clearly indicates that there is room for improvement in advertising for community organizations that can help individuals with albinism improve their quality of life related to their vision care by hosting low vision clinics, educational sessions, and introducing them to other resources. This could be an area of focus for optometrists, ophthalmologists, family medicine doctors, dermatologists or other providers that work with patients with albinism routinely to tell more of their patients about nearby organizations that offer these services. As Table 4 shows, there was no clear relationship between certain demographics (such as having lower annual income or being uninsured) and being unaware of community resources. This was further supported by Fisher’s exact testing that did not reach significance for any of the demographic sub-categories analyzed. For this reason, providers seeing patients with albinism should discuss resources with all patients they see, regardless of insurance type, income, age, or other demographic factors.

Table 4.

Relationship Between Demographics and Awareness of Community Resources.

Profile	Demographic Factor	Sub-category	Total Number	Number who were unaware of community resources	Percent of total	Probability that observed difference in groups is due to chance
Not aware of	Gender Identity	Male	15	6	40%	p value = 1.0000
Community		Female	31	13	42%
Resources (n = 19)		Transgender	1	0	0%
	Age	0–17 years old	16	3	19%	p value = 0.1103
		18–25 years old	2	2	100%
		26–40 years old	16	8	50%
		41–65 years old	10	5	50%
		66–80 years old	1	0	0%
		81+ years old	2	1	50%
	Race	White	38	16	42%	p value = 0.9113
		Black or African American	5	1	20%
		Asian	2	1	50%
		Other (multiracial)	2	1	50%
	Primary language	English	43	17	40%	p value = 0.6455
	spoken at home	Hindi	1	0	0%
		Xhosa	1	1	100%
	Annual Household	<$25k	3	2	67%	p value = 0.7712
	Income	$25–49k	4	1	25%
		$50–74k	10	2	20%
		$75–100k	5	3	60%
		$100–150k	7	3	43%
		$150–200k	5	2	40%
		$200k+	3	1	33%
		Did not disclose	10	5	50%
	Insurance	Private medical insurance	31	12	39%	p value = 0.3783
		Insurance through family	3	2	67%
		Medicare/Medicaid	6	1	17%
		No medical insurance	5	3	60%

Limitations

Limitations of this study include a small number of participants and relatively short study period. The study was advertised on the NOAH website and to previous research participants at the MCW Eye Institute, but there is concern that individuals who are especially low income or who are not connected to the larger albinism community, do not know about (or do not have access to) the NOAH website and thus did not have the opportunity to participate in this study. It is possible that individuals who know about the NOAH website or have participated in research inherently have better access than those who do not and were not able to find the survey, thus our results may overestimate access to resources for the overall albinism community. By the nature of this study being an online survey, some individuals without access to computers or reliable Internet, including those who live in especially rural areas, may have been unintentionally excluded. Furthermore, the study is a voluntary survey, which lends itself to self-report bias.

Future efforts should be aimed at expanding genetic testing opportunities in the United States and worldwide, with European Reference Network for Rare Eye Diseases putting out a statement in 2021 calling for formal genomic testing pathways and arrangements to meet the demand for genetic testing and ensure access.²⁹ Greater access to genetic testing will benefit individuals, by giving them a better understanding of their disease, and society by furthering our understanding of the different albinism genotypes and phenotypes. There is need for expanding outreach and advertisement of local community resources to improve quality of life, because our study shows there is need for further knowledge about and utilization of these services.

Supplemental Material

sj-docx-1-map-10.1177_27550834251371501 – Supplemental material for Survey of genetic testing, community involvement, and vision care in Albinism

Supplemental material, sj-docx-1-map-10.1177_27550834251371501 for Survey of genetic testing, community involvement, and vision care in Albinism by Polina Prokhoda and Joseph Carroll in The Journal of Medicine Access

Footnotes

Acknowledgements

N/A

ORCID iDs

Polina Prokhoda

Joseph Carroll

Ethical considerations

The study received ethical approval by the Medical College of Wisconsin (MCW) Institutional Review Board [PRO 40631] in June 2022 and followed the tenets of the Declaration of Helsinki.

Consent for publication

Respondents reviewed a statement on the first page of the survey regarding the risks and benefits of participating in the study and gave written consent by clicking the continue button if they agreed to participate on behalf of themselves or a minor.

Author contributions

Polina Prokhoda: Conceptualization; Formal analysis; Investigation; Methodology; Writing—original draft.

Joseph Carroll: Conceptualization; Data curation; Formal analysis; Funding acquisition; Investigation; Project administration; Resources; Software; Supervision; Writing—original draft.

Funding

The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: Research reported in this publication was supported in part by the National Eye Institute of the National Institutes of Health under award number R01EY033580. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

Declaration of conflicting interests

The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Availability of data and material

N/A

Supplemental material

Supplemental material for this article is available online.

Trial registration number/date

PRO 40631/June 2022

Grant number

R01EY033580

Other journal-specific statements as applicable

N/A

References

Lam

Leroy

Black

, et al. Genetic testing and diagnosis of inherited retinal diseases. Orphan J Rare Dis 2021; 16(1): 514.

Venter

Adams

Myers

, et al. The sequence of the human genome. Science 2001; 291(5507): 1304–1351.

International Human Genome Sequencing C. Finishing the euchromatic sequence of the human genome. Nature 2004; 431(7011): 931–945.

Duncan

Pierce

Laster

, et al. Inherited retinal degenerations: current landscape and knowledge gaps. Transl Vis Sci Technol 2018; 7(4): 6.

Summers

. Vision in albinism. Trans Am Ophthalmol Soc 1996; 94: 1095–1155.

Woertz

Ayala

Wynne

, et al. Quantitative foveal structural metrics as predictors of visual acuity in human albinism. Invest Ophthalmol Visual Sci 2024; 65(3): 3.

Marçon

Maia

. Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors. An Bras Dermatol 2019; 94(5): 503–520.

Summers

. Albinism: Classification, clinical characteristics, and recent findings. Optom Vis Sci 2009; 86(6): 659–662.

Proudlock

McLean

Sheth

, et al. Phenotypic features determining visual acuity in albinism and the role of amblyogenic factors. Invest Ophthalmol Visual Sci 2024; 65(2): 14.

10.

Seguy

Korobelnik

Delyfer

, et al. Ophthalmologic phenotype–genotype correlations in patients with oculocutaneous albinism followed in a reference center. Invest Ophthalmol Visual Sci 2023; 64(12): 26.

11.

Neveu

Padhy

Ramamurthy

, et al. Ophthalmological manifestations of oculocutaneous and ocular albinism: current perspectives. Clin Ophthalmol 2022; 16: 1569–1587.

12.

Norman

O’Gorman

Gibson

, et al. Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B). Sci Report 2017; 7(1): 4415.

13.

Saka

Mouhari-Toure

Adam

, et al. Dermatological and epidemiological profile of patients with albinism in Togo in 2019: results of two consultation campaigns. Int J Dermatol 2020; 59(9): 1076–1081.

14.

Asadi-Lari

Tamburini

Gray

. Patients’ needs, satisfaction, and health related quality of life: towards a comprehensive model. Health Qual Life Outcome 2004; 2(1): 32.

15.

Harris

Taylor

Thielke

, et al. Research electronic data capture (REDCap)—A metadata-driven methodology and workflow process for providing translational research informatics support. J Biomed Inform 2009; 42(2): 377–381.

16.

Elements of Access to Health Care: Timeliness. Rockville, MD: Agency for Healthcare Research and Quality, 2016, https://www.ahrq.gov/research/findings/nhqrdr/chartbooks/access/elements3.html

17.

Childers

Maggard -Gibbons

Macinko

, et al. National distribution of cancer genetic testing in the United States. JAMA Oncology 2018; 4(6): 876–879.

18.

McGrath

Laflemme

Schwartz

, et al. Access to genetic counseling for children with autism, Down syndrome, and intellectual disabilities. Pediatrics 2009; 124(Supplement 4): S443-S449.

19.

Addie

Alper

Beachy

. Exploring the barriers to accessing genomic and genetic services. Understanding Disparities in Access to Genomic Medicine. Washington, DC: The National Academies Press, 2018, pp.11–22.

20.

Schillinger

. Social determinants, health literacy, and disparities: Intersections and controversies. Health Lit Res Pract 2021; 5(3): e234–e243.

21.

Fleary

Ettienne

. Social disparities in health literacy in the United States. Health Lit Res Pract 2019; 3(1): e47–e52.

22.

Dansereau

Masiye

Gakidou

, et al. Evidence from a cross-sectional national exit survey of HIV and non-HIV service users in Zambia. British Med J 2015; 5(12): e009700.

23.

von Elm

Altman

Egger

, et al. The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement: guidelines for reporting observational studies. Ann Intern Med 2007; 147: 573–577.

24.

Federico

Krishnamurthy

. Albinism. Treasure Island, FL: StatPearls Publishing, 2023.

25.

Phatoli

Bila

Ross

. Being black in a white skin: Beliefs and stereotypes around albinism at a South African university. Afr J Disabil 2015; 4(1): 106.

26.

Ong

Yaow

CYL

, et al. Cost-of-illness studies of inherited retinal diseases: a systematic review. Orphan J Rare Dis 2024; 19: 93.

27.

Lee

Hoskins

Jr Smith

, et al. Access to eye care: response of the American Academy of Ophthalmology and its members to societal needs now and in the future. Arch Ophthalmol 2007; 125(3): 403–405.

28.

Stone

Aldave

Drack

, et al. Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing. Ophthalmology 2012; 119(11): 2408–2410.

29.

Black

Sergouniotis

Sodi

, et al. The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement. Orphan J Rare Dis 2021; 16(1): 142.

30.

Neiweem

Ciulla

Hariprasad

. Genetic Testing Prevalence, Guidelines, and Pitfalls in Large, University-Based Medical Systems. Ophthal Surg Laser Imag Retina 2021; 52: 6–10.

31.

Chan

Bohnsack

Ing

, et al. Diagnostic yield of genetic testing for ocular and oculocutaneous albinism in a diverse United States pediatric population. Genes 2023; 14(1): 135.

32.

Lenassi

Clayton-Smith

Douzgou

, et al. Clinical utility of genetic testing in 201 preschool children with inherited eye disorders. Genetic Med 2020; 22(4): 745–751.

33.

McClard

Pollalis

Jamshidi

, et al. Utility of no-charge panel genetic testing for inherited retinal diseases in a real-world clinical setting. J Vitreoretin Dis 2022; 6(5): 351–357.

34.

Mansfield

Yerxa

Branham

. Implementation of a registry and open access genetic testing program for inherited retinal diseases within a non-profit foundation. Am J Med Genet C Semin Med Genet 2020; 184(3): 838–845.

35.

Blain

Goetz

Ayyagari

, et al. EyeGENE®: A vision community resource facilitating patient care and paving the path for research through molecular diagnostic testing. Clin Genet 2013; 84(2): 190–197.

36.

Goetz

Reeves

Gagadam

, et al. Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network. Am J Med Genet C Semin Med Genet 2020; 184(3): 828–837.

Supplementary Material

Please find the following supplemental material available below.

For Open Access articles published under a Creative Commons License, all supplemental material carries the same license as the article it is associated with.

For non-Open Access articles published, all supplemental material carries a non-exclusive license, and permission requests for re-use of supplemental material or any part of supplemental material shall be sent directly to the copyright owner as specified in the copyright notice associated with the article.

0.00 MB

0.03 MB

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

Abstract

Background:

Objectives:

Design:

Methods:

Results:

Conclusion:

Keywords

Background

Objectives

Design

Methods

Results

Demographics

Access to vision care

Access to genetic testing

Access to community resources

Conclusion

Demographics

Access to vision care

Access to genetic testing

Access to community resources

Limitations

Supplemental Material

sj-docx-1-map-10.1177_27550834251371501 – Supplemental material for Survey of genetic testing, community involvement, and vision care in Albinism

Footnotes

Acknowledgements

ORCID iDs

Ethical considerations

Consent for publication

Author contributions

Funding

Declaration of conflicting interests

Availability of data and material

Supplemental material

Trial registration number/date

Grant number

Other journal-specific statements as applicable

References

Supplementary Material