A renal genetics clinic – model for our times

Robinson, Caroline; Sandford, Richard; Wiseman, Oliver; Sarker, Anita; Karet, Fiona E.

doi:10.7861/clinmedicine.19-2-s140

Cited by 1 publication

(1 citation statement)

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“…If patients require genetic testing but there are barriers to being seen in a Medical Genetics clinic, primary care providers and other specialists may order genetic testing on their own without genetics support (Shields, Burke, & Levy, 2008), even though literature has shown that these providers have little experience or training in genetic testing (Greendale & Pyeritz, 2001; Mainous, Johnson, Chirina, & Baker, 2013). Other institutions have set up joint kidney genetics clinics, staffed by nephrologists, genetic counselors, and geneticists, which see 30–160 patients per year (Adalat, Bockenhauer, Ledermann, Hennekam, & Woolf, 2010; Alkanderi, Yates, Johnson, & Sayer, 2017; Mallett, Corney, McCarthy, Alexander, & Healy, 2015; Mallett, Fowles, McGaughran, Healy, & Patel, 2016; Robinson, Sandford, Wiseman, Sarker, & Karet Frankl, 2019; Thomas et al, 2020). These workforce shortages lead to delayed appointments, and thus, delayed diagnosis.…”

Section: Introductionmentioning

confidence: 99%

Novel genetic testing model: A collaboration between genetic counselors and nephrology

Amlie‐Wolf

Baker

Hiddemen

et al. 2021

American J of Med Genetics Pt A

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Many barriers to genetic testing currently exist which delay or prevent diagnosis. These barriers include wait times, staffing, education, and cost. Specialists are able to identify patients with disease that may need genetic testing, but lack the genetics support to facilitate that testing in the most cost, time, and medically effective manner. The Nephrology Division and the Genetic Testing Stewardship Program at Nemours A.I. duPont Hospital for Children created a novel service delivery model in which nephrologists and genetic counselors collaborate in order to highlight their complementary strengths (clinical expertise of nephrologists and genetics and counseling skills of genetic counselors). This collaboration has reduced many barriers to care for our patients. This workflow facilitated the offering of genetic testing to 76 patients, with 86 tests completed over a 20‐month period. Thirty‐two tests were deferred. Twenty‐seven patients received a diagnosis, which lead to a change in their medical management, three of whom were diagnosed by cascade family testing. Forty‐two patients had a negative result and 16 patients had one or more variants of uncertain significance on testing. The inclusion of genetic counselors in the workflow is integral toward choosing the most cost and time effective genetic testing strategy, as well as providing psychosocial support to families. The genetic counselors obtain informed consent, and review genetic test results and recommendations with the patient and their family. The availability of this program to our patients increased access to genetic testing and helps to provide diagnoses and supportive care.

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