The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect?

Abstract

Although Mendelian genetic disorders are individually rare, they are collectively more common and contribute disproportionately to pediatric morbidity and mortality. Remarkable advances in the last decade have led to identification of the precise genetic variants responsible for many of these conditions. Confirming the molecular diagnosis through genetic testing allows for individualized treatment plans in addition to ending the diagnostic odyssey, which not only halts further unnecessary testing but also may result in immense psychological benefit, leading to improved quality of life. However, ensuring equitable application of these advances in genomic technology has been challenging. Though prior studies have revealed disparities in testing for genetic predisposition to cancer in adults, little is known about the prevalence and nature of disparities in diagnostic testing in the pediatric rare disease population. While it seems logical those with impaired access to healthcare would be less likely to receive the genetic testing needed to end their odyssey, few studies have addressed this question directly and the potential impact on health outcomes. This review synthesizes the available evidence regarding disparities in pediatric genetic diagnosis, defining the need for further, prospective studies with the ultimate goal of delivering precision medicine to all who stand to benefit.

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“…Racial minority populations in the United States are disproportionately affected by these healthcare disparities (73). Consistent with these findings, multiple studies have documented disparities in access to genetic services for low-income and minority patients (36,53,63,65,69,119,126). Barriers include limitations in physicians' genetics knowledge, use of genetic testing, and referral to genetic services; availability and cost of services; lack of translation services; and failure of appropriate follow-up after testing or referral occurs.…”

“…Barriers include limitations in physicians' genetics knowledge, use of genetic testing, and referral to genetic services; availability and cost of services; lack of translation services; and failure of appropriate follow-up after testing or referral occurs. Although clinic-based interventions can improve genetic assessment and referral rates (63,69), many of the barriers reflect underlying social determinants that constrain patient options (53).…”

Navigating the U.S. health insurance landscape for children with rare diseases: a qualitative study of parents’ experiences

“…Many inequities exist in the U.S. healthcare system and, although the extent has not been fully determine, are likely to negatively affect individuals living with genetic or rare diseases similarly to other populations of patients [56]. Rare diseases are not limited to certain sociodemographic populations and social determinants of health such as income, race, community, access to services, social supports, and education are likely to affect the timeliness and quality of care patients receive [57].…”

Results From the WAGR Syndrome Patient Registry: Characterization of WAGR Spectrum and Recommendations for Care Management

“…In other rare disease syndrome/spectrum disorders, subtle differences in the phenotypic presentation and clinical features between patients of diverse populations have been described, including another cancer predisposition disorder caused by chromosome 11p15 abnormalities ( 71 ). The potential influence of social health determinants on the “genetic diagnostic odyssey” has also recently been considered ( 72 ). It is possible that differences between diverse populations may occur within the WAGR spectrum population, leading to underdiagnosis of other diversity groups; however, the rarity of the disorder and severe clinical complications may also lead to geographic differences in survival outcomes based on medical care and awareness of this complex rare disorder, creating a bias in the populations of patients and families available to learn from.…”