Genome Medical
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Research

Uptake of Pre- and Post-Test Genetic Counseling for Individuals Undergoing Consumer-Directed Genetic Testing

By | Uncategorized, Research

November 2019 By Weissman SM, Bailey J, Fan A, Fine CA, Gordon ES, Jordan E, LeLuyer B, Meyers L, Rope A, Shabazz H, Swope B, and Bleyl SB Consumer-directed genetic testing (CD-GT) continues to grow in popularity, evidenced by the increasing number of tests entering the genetic testing market and the number of consumers ordering them. Many labs that offer CD-GT also provide access to pre- and/or post-testing genetic counseling (GC) through partnerships with independent telegenomics companies. The cost of GC services is typically built into the cost of the test to help reduce barriers to accessing GC services, but the uptake of GC services associated with CD-GT is not well established. Genome Medical, a nationwide genomics medical practice, provides pre- and post-test GC services to multiple laboratories offering CD-GT and we recently evaluated the utilization of our GC services with our CD-GT partners. Since 2017, we have provided personal and family history review and genetic test authorization for 1065 individuals for the following indications: expanded newborn screening, mature onset diabetes of the young (MODY), familial hypercholesterolemia (FH), proactive health including targeted 59 gene panel testing and “whole genome sequencing” and polygenic prostate cancer risk. Emails prior to test authorization were sent…

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Uptake of Services Among Patients Referred for Hereditary Cancer Genetic Counseling

By | Research, Cancer

By Gordon, ES, Fine CA, Swope B, Meyers L, Weissman SM, Bailey J, Fan A, Jordan E, LeLuyer B, Rope AF, Shabazz H, and Bleyl SB Recent studies have found that despite clear guidelines, patients are under referred for genetic counseling for hereditary cancer risks (Childrers et al 2017). However the impact of low referral is further compounded by low uptake of genetic counseling among those who are referred. Published data suggests that in the majority of studies uptake of referrals for hereditary cancer counseling is less than 50% (7.3% to 44%) (Niendorf et al 2016, Kne et al 2017, Rahm et al 2007). Here we describe our approach to referrals, data on patient follow through and proposed opportunities for improvement. Genome Medical, a nationwide telegenetic service, contracted with a large health system to provide cancer genetic counseling services. To date, we received 407 referrals in an 11 week period. All patients were referred to genetics within the health system previously, but due to staffing shortages did not see a genetics provider. Some referrals were up to 12 months old. All patients referred to Genome Medical were contacted within one week of receiving the referral to attempt to schedule. Two…

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Experience with Healthy Individuals Pursuing Genomic Screening

By | Proactive, Research

November 2018 Advances in genome sequencing have allowed the public to pursue rapid, more available, and less costly genetic testing options. ‘Genetic wellness” has become more popular and proactive genomic screening is increasingly being explored by healthy individuals in order to reveal genetic insights into medically actionable outcomes. As a nationwide medical practice of genetic counselors and medical geneticists, we describe our experience providing responsible access to genomic information to apparently healthy individuals via assessment, counseling, test authorization, and clinical management using a telemedicine platform. See Abstract

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