Genetic disease and intellectual disability as contraindications to transplant listing in the United States: A survey of heart, kidney, liver, and lung transplant programs

Abstract

Discrimination based on disability is prohibited in organ transplantation, yet studies suggest it continues in listing practices for intellectual disability and genetic diseases. It is not known if this differs between adult and pediatric programs, or by organ type. We performed an online, forced-choice survey of psychosocial listing criteria for adult and pediatric heart, kidney, liver, and lung transplant programs in the United States. Of 650 programs contacted, 343 (52.8%) submitted complete. A minority of programs had formal listing guidelines for any condition considered (Down Syndrome, Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, DiGeorge Syndrome, and Wolf Hirschhorn Syndrome; and mild [IQ < 70] and severe [IQ < 35] intellectual disability), although a majority had encountered most. Pediatric programs were significantly (P < .02) more lenient in the level of contraindication to listing for all genetic conditions considered except Duchenne Muscular Dystrophy, and for mild and severe intellectual disability. Level of contraindication differed significantly by organ type (heart, lung, liver, and kidney) for Duchenne Muscular dystrophy (P = <.001), Becker Muscular Dystrophy (P < .001), DiGeorge Syndrome (P < .001), Wolf-Hirschhorn syndrome (P = .0012), and severe intellectual disability (P < .001). There is significant variation among transplant programs in availability of guidelines for as well as listing practices regarding genetic diseases and intellectual disability, differing by both adult vs pediatric program, and organ type. Programs with absolute contraindications to listing for specific genetic diseases or intellectual disability should reframe their approach, ensuring individualized assessments and avoiding elimination of patients based on membership in a particular group.

Heart Transplantation in Children With Down Syndrome

“…We only queried pediatric HTx centers and therefore may have missed adults with DS who have undergone HTx. However, given the lack of published reports of HTx in adults with DS and the fact that pediatric providers are less likely to view DS as a contraindication to transplantation, 55 we believe that we have captured a large extent of the worldwide experience in this population. Although this represents the largest report of HTx in DS to date, the numbers remain small.…”

Heart transplantation in children and adults with Down syndrome: A single centre experience

“…Every patient deserves an individual evaluation. However, there is significant variation in terms of guidelines for listing patients with intellectual disability 11 . Children with intellectual and developmental disabilities should no longer be excluded and should be referred for evaluation as transplant recipients 11,12 .…”

Artificial Intelligence in Medical Imaging and its Impact on the Rare Disease Community: Threats, Challenges and Opportunities

“…32 Yet, despite the recommendation of the Americans with Disabilities Act (ADA) 33 and Genetic Information Nondiscrimination Act (GINA) 34 reportedly, many transplant programs across the US continue to be biased and discriminate against those with intellectual and genetic diseases. 35 Therefore, the issue of data protection and ownership becomes more crucial than ever. It is not far-fetched to assume that many families and patients would have a similar response to AIbased diagnosis or management if they think the results and findings would be used to stigmatize or ostracize them.…”

“…40 For example, there are differences across transplant programs when it comes to the availability of standards and listing policies for genetic diseases and intellectual disabilities. 35 Confidentiality transgressions with unethical usage of PHI may occur endangering the social fabric of this already disadvantaged community of patients with RDs. c. Consent for revealing incidental findings by rare diseases-aware artificial intelligence: AI can open the door for vast amounts of patient data and sensitive information to play a role in clinical decision making.…”

“…Medical programs and health institutions should rethink their strategy, ensuring individualized evaluations and preventing the exclusion of patients based on their RD group membership. 35 Additionally, AI-based diagnosis of a RD and associated data should not be used to discriminate against this group or deny or delay care. We need to create legal protections for vulnerable populations including those with diagnosed RDs.…”