Use of genetic risks in pediatric organ transplantation listing decisions: A national survey

Abstract

There is a limited supply of organs for all those who need them for survival. Thus, careful decisions must be made about who is listed for transplant. Studies show that manifesting genetic disease can impact listing eligibility. What has not yet been studied is the impact genetic risks for future disease have on a patient's chance to be listed. Surveys were emailed to 163 pediatric liver, heart, and kidney transplant programs across the United States to elicit views and experiences of key clinicians regarding each program's use of genetic risks (ie, predispositions, positive predictive testing) in listing decisions. Response rate was 42%. Sixty‐four percent of programs have required genetic testing for specific indications prior to listing decisions. Sixteen percent have required it without specific indications, suggesting that genetic testing may be used to screen candidates. Six percent have chosen not to list patients with secondary findings or family histories of genetic conditions. In hypothetical scenarios, programs consider cancer predispositions and adult‐onset neurological conditions to be relative contraindications to listing (61%, 17%, and 8% depending on scenario), and some consider them absolute contraindications (5% and 3% depending on scenario). Only 3% of programs have formal policies for these scenarios, but all consult genetic specialists at least “sometimes” for results interpretation. Our study reveals that pediatric transplant programs are using future onset genetic risks in listing decisions. As genetic testing is increasingly adopted into pediatric medicine, further study is needed to prevent possible inappropriate use of genetic information from impacting listing eligibility.

Translating genomic testing results for pediatric critical care: Opportunities for genetic counselors

“…Previous studies have shown disparities in genetic expertise amongst clinicians, especially when it comes to the wide range of results that can come from genomic sequencing (Graf, Char, Hanson‐Kahn, & Magnus, ). This is especially pertinent for syndromic results that may have implications outside of the ordering clinician's specialty, as well as complicated results such as incidental findings and variants of uncertain significance (VUSs) where there is potential for clinicians to overstate the significance of a finding (Campion, Goldgar, Hopkin, Prows, & Dasgupta, ; Graf et al, ). The support requested by clinicians in our study was twofold: they desired both general knowledge support in understanding genetic findings for themselves, as well decision support from genetic specialist in contextualizing those results into a patient's care plan and using them in the critical care space.…”

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

“…A 2013 study of adult liver transplant programs found that 49.6% considered severe cognitive disability an absolute contraindication to listing versus 1.2% for mild cognitive disability 12 . A national survey of pediatric heart, kidney, and liver transplant programs found that 64% require genetic testing for specific indications, and that up to 61% consider genetic risk of cancer or adult‐onset neurological conditions as relative contraindications to transplant listing and up to 5% consider these risks as absolute contraindications to transplant listing 13 . These survey studies suggest that some programs continue to consider intellectual disability and genetic risk as absolute contraindications to transplant listing.…”

Parental Attitudes Toward Clinical Genomic Sequencing in Children With Critical Cardiac Disease

“…This is the first study examining how families of children with CCD view GS and its potential impacts on clinical care decisions. Increasing understanding of the genetic etiology of cardiac disease (2–4) and the potential immediacy of genetic findings on clinical choices (7) and financial considerations differentiate this population from parents of healthy children (23–25). Prior work examining the ethical, legal, and social implications of genomics for pediatrics has typically focused on specific populations (familial hypercholesterolemia, specific forms of congenital heart disease, etc) and concerns such as a child’s right to an open future or foreknowledge of future disease (26, 27).…”

“…Participants had conflicting thoughts regarding use of GS in life-limiting decisions, including allocation of scarce clinical resources. Many participants perceived use of GS results in life-limiting decisions as removing family agency from complex decisions: allocation is perceived as determined by whether a child has a “good genome” or a “bad genome.” A recent survey study of pediatric transplant programs suggests clinicians nationally are using GS to inform allocation decisions (23). Clinical studies of GS implementation in care of critically ill children have demonstrated the primary perceived benefit by clinicians of GS to be allowing earlier declaration of futility (10, 33).…”