Attitudes, knowledge, and risk perceptions of patients who received elective genomic testing as a clinical service.

PURPOSE: Elective genomic testing (EGT) is increasingly available clinically. Limited real-world evidence exists about attitudes and knowledge of EGT recipients. METHODS: After web-based education, patients who enrolled in an EGT program at a rural nonprofit health care system completed a survey that assessed attitudes, knowledge, and risk perceptions. RESULTS: From August 2020 to April 2022, 5920 patients completed the survey and received testing. Patients most frequently cited interest in learning their personal disease risks as their primary motivation. Patients most often expected results to guide medication management (74.0%), prevent future disease (70.4%), and provide information about risks to offspring (65.4%). Patients were "very concerned" most frequently about the privacy of genetic information (19.8%) and how well testing predicted disease risks (18.0%). On average, patients answered 6.7 of 11 knowledge items correctly (61.3%). They more often rated their risks for colon and breast cancers as lower rather than higher than the average person but more often rated their risk for a heart attack as higher rather than lower than the average person (all P < .001). CONCLUSION: Patients pursued EGT because of the utility expectations but often misunderstood the test's capabilities.

Genetic Counselors' attitudes & perceptions regarding suicide risk assessment and identification in practice.

While the heritability of suicidal tendencies is debated, receipt of various genetic diagnoses has shown an increased risk of suicidal ideation and behavior while simultaneously conferring risk to mental health concerns that may further increase this risk. However, the role of genetic counselors (GCs) in assessing and addressing suicide risk remains underutilized. A 15-item recruitment survey was distributed via the National Society of Genetic Counselors Student Research Survey Listserv, and interested individuals could opt to be contacted for an interview after completion. The data analysis included 107 survey responses and 15 semi-structured interviews, which were conducted to explore whether GCs feel that formal suicide risk assessment (SRA) falls within their scope of practice and the frequency with which it is employed during counseling sessions. Additionally, the study examined GCs' experiences, comfort levels, and training in assessing for suicide risk. All interviews were transcribed verbatim and independently coded by two researchers. The coding scheme was systematically constructed, integrating both deductive and inductive coding methods to inform the authors' interpretive description of SRA in the clinic, with four major themes identified by content analysis. Most respondents reported that they had worried about a patient harming themselves or having suicidal thoughts. Most respondents agreed or strongly agreed that SRA is within a GC's scope of practice. Lack of training emerged as the primary barrier to assessing suicide risk and conducting risk assessments. Other barriers included low self-efficacy, societal stigma, and personal discomfort, while access to social workers, natural inclination, and standardized screening tools served as facilitators. Despite encountering patients at risk of self-harm and suicide, most GCs do not utilize SRA tools. Furthermore, GCs expressed a strong desire for additional training to enhance their skills in identifying and managing at-risk patients. A multifocal approach to suicide risk reduction and education is required.

Familial communication and cascade testing following elective genomic testing.

Familial communication of results and cascade genetic testing (CGT) can extend the benefits of genetic screening beyond the patient to their at-risk relatives. While an increasing number of health systems are offering genetic screening as an elective clinical service, data are limited about how often results are shared and how often results lead to CGT. From 2018 to 2022, the Sanford Health system offered the Sanford Chip, an elective genomic test that included screening for medically actionable predispositions for disease recommended by the American College of Medical Genetics and Genomics for secondary findings disclosure, to its adult primary care patients. We analyzed patient-reported data about familial sharing of results and CGT among patients who received Sanford Chip results at least 1 year previously. Among the patients identified with medically actionable predispositions, 94.6% (53/56) reported disclosing their result to at least one family member, compared with 46.7% (423/906) of patients with uninformative findings (p < 0.001). Of the patients with actionable predispositions, 52.2% (12/23) with a monogenic disease risk and 12.1% (4/33) with a carrier status reported that their relatives underwent CGT. Results suggest that while the identification of monogenic risk during elective genomic testing motivates CGT in many at-risk relatives, there remain untested at-risk relatives who may benefit from future CGT. Findings identify an area that may benefit from increased genetic counseling and the development of tools and resources to encourage CGT for family members.

Individual with Homozygous TECR Variant Expands Upon the Existing Phenotype for a Hutterite Founder Mutation.

Intellectual disability (ID) is ubiquitous across nations affecting roughly 1 percent of the world's population. Improvements in genetic testing methodologies have led to increased understanding about the etiology of ID. However, many cases remain idiopathic. We describe the first individual outside of an existing sibship with a homozygous TECR variant; c.545C>T. Similar to the previously described sibship, this individual is of Hutterite ancestry; suggesting that TECR-related ID is due to a founder mutation. The phenotypic spectrum is expanded to include dolicocephaly and dysgenesis of the corpus callosum. First-tier genetic testing (chromosomal microarray) identified multiple regions of homozygosity (ROH); however, the diagnosis was made by second-tier sequencing in a gene outside of any ROH. The authors advocate for the use of second-tier sequencing in cases of ID in the absence of major congenital anomalies or the presence of consanguinity and/or a limited gene pool. At the very least, sequencing of the TECR gene should be included in the diagnostic workup for individuals with Hutterite ancestry presenting with ID.

Primary Care Providers' Experiences With an Active Elective Genetic Testing Program.

Elective genetic testing (EGT) programs that provide pharmacogenomic information to guide medication management and screen for medically actionable disease predispositions are emerging in a number of health systems. Primary care providers (PCPs) are at the forefront of test initiation, patient education, and management of EGT results. However, little research has examined the experiences of PCPs in health systems offering clinical EGT. We conducted semi-structured interviews, a sub-study of the larger mixed-methods Imagenetics Initiative, with 16 PCPs at a health system in the Midwest with a clinical EGT program supported by provider education, automated clinical decision support, and enhanced access to genetic specialists. The purpose of these interviews was to understand perceptions about the benefits and barriers of implementing EGT in clinical practice. Thematic analysis indicated that EGT is conceptualized similar to traditional diagnostic services. PCPs were generally favorable toward EGT; however, targeted education did not dispel misconceptions about the goals, results, and limitations of EGT. Most PCPs endorsed the potential utility of EGT. Pharmacogenomic profiling was seen as having more immediate impact for patients than screening for monogenic disease risks. PCPs reported that they weighed discussions about EGT against time limitations and the need to prioritize patients' existing health concerns. Regardless of their education levels and familiarity with genetics, PCPs desired additional educational resources and greater access to genetic specialists. Our study provides unique insight into PCPs' experiences with clinical EGT in health systems that have adopted EGT and highlights the practical challenges and potential opportunities of EGT integration.

Workforce Considerations When Building a Precision Medicine Program.

This paper describes one healthcare system's approach to strategically deploying genetic specialists and pharmacists to support the implementation of a precision medicine program. In 2013, Sanford Health initiated the development of a healthcare system-wide precision medicine program. Here, we report the necessary staffing including the genetic counselors, genetic counseling assistants, pharmacists, and geneticists. We examined the administrative and electronic medical records data to summarize genetic referrals over time as well as the uptake and results of an enterprise-wide genetic screening test. Between 2013 and 2020, the number of genetic specialists employed at Sanford Health increased by 190%, from 10.1 full-time equivalents (FTEs) to 29.3 FTEs. Over the same period, referrals from multiple provider types to genetic services increased by 423%, from 1438 referrals to 7517 referrals. Between 2018 and 2020, 11,771 patients received a genetic screening, with 4% identified with potential monogenic medically actionable predisposition (MAP) findings and 95% identified with at least one informative pharmacogenetic result. Of the MAP-positive patients, 85% had completed a session with a genetics provider. A strategic workforce staffing and deployment allowed Sanford Health to manage a new genetic screening program, which prompted a large increase in genetic referrals. This approach can be used as a template for other healthcare systems interested in the development of a precision medicine program.

Precision Population Medicine in Primary Care: The Sanford Chip Experience.

Genetic testing has the potential to revolutionize primary care, but few health systems have developed the infrastructure to support precision population medicine applications or attempted to evaluate its impact on patient and provider outcomes. In 2018, Sanford Health, the nation's largest rural nonprofit health care system, began offering genetic testing to its primary care patients. To date, more than 11,000 patients have participated in the Sanford Chip Program, over 90% of whom have been identified with at least one informative pharmacogenomic variant, and about 1.5% of whom have been identified with a medically actionable predisposition for disease. This manuscript describes the rationale for offering the Sanford Chip, the programs and infrastructure implemented to support it, and evolving plans for research to evaluate its real-world impact.