Where Do We Go From Here? The Need for Genetic Referrals in Patients who are Deaf or Hard of Hearing: Findings from a Regional Survey

Purpose: The purpose of this study was to assess primary health care providers’ knowledge and use of genetic services for children whose hearing screening indicates they may be deaf/hard of hearing (D/HH) and identify areas in which health care providers can be supported to increase family education and referral of families for genetic consultation. Methodology: A survey was developed on current practices, knowledge, and perceived beliefs regarding genetic education and referrals for deafness. The surveys were distributed to pediatricians, family medicine physicians, nurse practitioners, and physician assistants in DC, DE, MD, NJ, NY, PA, VA, and WV. Results: Among 266 respondents, 80% were uninformed about Early Hearing Detection Intervention (EHDI) 1-3-6 guidelines prior to taking the survey. Approximately 55% were not confident about the genetic causes of deafness, 44% rarely consulted genetics professionals, 41% had not referred families to genetics, and 37% were not confident about the importance of genetic referrals. Conclusions: Integrated, targeted, and user-friendly genetics education strategies in the existing EHDI framework are needed to ensure adequate awareness and delivery of genetics services for D/HH children

Employees\u27 Views and Ethical, Legal, and Social Implications Assessment of Voluntary Workplace Genomic Testing

Employers have begun to offer voluntary workplace genomic testing (wGT) as part of employee wellness benefit programs, but few empirical studies have examined the ethical, legal, and social implications (ELSI) of wGT. To better understand employee perspectives on wGT, employees were surveyed at a large biomedical research institution. Survey respondents were presented with three hypothetical scenarios for accessing health-related genomic testing: via (1) their doctor; (2) their workplace; and 3) a commercial direct-to-consumer (DTC) genetic testing company. Overall, 594 employees (28%) responded to the survey. Respondents indicated a preference for genomic testing in the workplace setting (70%; 95% CI 66-74%), followed by doctor\u27s office (54%; 95% CI 50-58%), and DTC testing (20%; 95% CI 17-24%). Prior to participating in wGT, respondents wanted to know about confidentiality of test results (79%), existence of relevant laws and policies (70%), and privacy protection (64%). Across scenarios, 92% of respondents preferred to view the test results with a genetic counselor. These preliminary results suggest that many employees are interested and even prefer genetic testing in the workplace and would prefer testing with support from genetic health professionals. Confirmation in more diverse employer settings will be needed to generalize such findings

Voluntary workplace genomic testing: wellness benefit or Pandora\u27s box?

Consumer interest in genetic and genomic testing is growing rapidly, with more than 26 million Americans having purchased direct-to-consumer genetic testing services. Capitalizing on the increasing comfort of consumers with genetic testing outside the clinical environment, commercial vendors are expanding their customer base by marketing genetic and genomic testing services, including testing for pharmacogenomic and pathogenic variants, to employers for inclusion in workplace wellness programs. We describe the appeal of voluntary workplace genomic testing (wGT) to employers and employees, how the ethical, legal, and social implications literature has approached the issue of genetic testing in the workplace in the past, and outline the relevant legal landscape. Given that we are in the early stages of development of the wGT market, now is the time to identify the critical interests and concerns of employees and employers, so that governance can develop and evolve along with the wGT market, rather than behind it, and be based on data, rather than speculative hopes and fears

Health Care Utilization and Behavior Changes After Workplace Genetic Testing at a Large US Health Care System

PURPOSE: This study explored employee health behavior changes and health care utilization after workplace genetic testing (wGT). Wellness-program-associated wGT seeks to improve employee health, but the related health implications are unknown. METHODS: Employees of a large US health care system offering wGT (cancer, heart disease, and pharmacogenomics [PGx]) were sent electronic surveys. Self-reported data from those who received test results were analyzed. Descriptive statistics characterized responses, whereas logistic regression analyses explored correlates of responses to wGT. RESULTS: 53.9% (n = 418/776) of respondents (88.3% female, mean age = 44 years) reported receiving wGT results. 12.0% (n = 48/399) received results indicating increased risk (IR) of cancer, 9.5% (n = 38/398) had IR of heart disease, and 31.4% (n = 125/398) received informative PGx results. IR results for cancer and/or heart disease (n = 67) were associated with health behavior changes (adjusted odds ratio: 3.23; 95% CI 1.75, 6.13; P \u3c .001) and health care utilization (adjusted odds ratio: 8.60; 95% CI 4.43, 17.5; P \u3c .001). Informative PGx results (n = 125) were associated with medication changes (PGx-informative: 15.2%; PGx-uninformative: 4.8%; P = .002). CONCLUSION: This study explored employee responses to wGT, contributing to the understanding of the ethical and social implications of wGT. Receiving IR results from wGT may promote health behavior changes and health care utilization in employees

Family health history and genetic services-the East Baltimore community stakeholder interview project.

Discussion of family health history (FH) has the potential to be a communication tool within families and with health providers to stimulate health promotion related to many chronic conditions, including those with genetic implications for prevention, screening, diagnosis, treatment. Diverse communities with disparities in health outcomes may require different approaches to engage individuals and families in the evolving areas of genetic risk communication, assessment, and services. This work was a partnership of a local urban agency and academic genetics professionals to increase understanding of community concerns and preferences related to FH and genetic awareness. Thirty community stakeholders in the East Baltimore area participated in structured interviews conducted by community members. We identified key themes on family health history FH, risk assessment, and genetic services. Forty-three percent (18/27) of community stakeholders thought families in East Baltimore did not discuss family health history FH with doctors. Stakeholders recognized the benefits and challenges of potential actions based on genetic risk assessment and the multiple competing priorities of families. FH awareness with community engagement and genetics education were the major needs identified by the participants. Research undertaken in active collaboration with community partners can provide enhanced consumer perspectives on the importance of family health history and its potential connections to health promotion and prevention activities

Where Do We Go From Here? The Need for Genetic Referrals in Patients who are Deaf or Hard of Hearing: Findings from a Regional Survey: Data and Code

The data and R code for the report: "Where Do We Go From Here? The Need for Genetic Referrals in Patients who are Deaf or Hard of Hearing: Findings from a Regional Survey" published in JEHDI in May 2018