Healthcare utilization and behavior changes following workplace genetic testing at a large U.S. healthcare system.

PURPOSE: This study explored employee health behavior changes and healthcare utilization following workplace genetic testing (wGT). Wellness program-associated wGT seeks to improve employee health, but related health implications are unknown. METHODS: Employees of a large U.S. healthcare 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, while 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 (aOR 3.23; 95% CI 1.75, 6.13; p<0.001) and healthcare utilization (aOR 8.60; 95% CI 4.43, 17.5; p<0.001). Informative PGx results (n=125) were associated with medication changes (PGx - informative: 15.2%; PGx - uninformative: 4.8%; p=0.002). 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 healthcare utilization in employees.

Experiences of genetic testing among individuals with retinitis pigmentosa.

BACKGROUND: Retinitis pigmentosa (RP) is a genetically heterogeneous retinal dystrophy which results in progressive vision loss. There is scant literature on the experiences of genetic testing in patients with RP. MATERIALS AND METHODS: Patients with a clinical diagnosis of RP who received genetic testing at the Wills Eye Ocular Genetics clinic between 2016 and 2020 were recruited. Telephone interviews were conducted using a semi-structured guide designed to elicit participant experiences with genetic testing. A thematic analysis was performed to describe patterns in participant responses. RESULTS: Twelve patients participated. Seven participants identified as female and five as male, with ages ranging from 22 to 70. Ten patients had positive genetic test results, while two had negative genetic testing. Reported motivations for genetic testing included qualification for clinical trials (58% of total participants), determination of etiology or usal gene (50%), reproductive concerns (50%), and prognostic outlook (50%). Most participants (75%) expressed satisfaction about their decision to pursue genetic testing. Participants with both positive and negative genetic testing reported persistent uncertainty regarding their prognosis for visual decline (50%). Genetic confirmation of disease leads to initiation of safety and vision-protecting health behaviors (42%). CONCLUSION: Patients with RP are generally satisfied with their testing experience, despite approaching testing with a wide range of motivations and expectations. Future research can leverage this methodology to identify targets for improvement in pre- and post-test education and counselling.

Insight into how patients with prostate cancer interpret and communicate genetic test results: implications for families.

Patients with prostate cancer (PCA) are increasingly being offered germline genetic testing for precision therapy, precision management, and clinical trial options. Genetic test results also have implications for family members. How men with PCA perceive their genetic test results and decide whether to share recommendations with family members is not well studied. We interviewed 12 patients who had PCA and genetic testing and received a positive variant/likely positive variant (PV/LPV) (n = 7) or a variant of unknown significance (VUS) (n = 5) result. The semi-structured interview had five sections: genetic testing experience, impact, and interpretation of the test result, deciding whether to communicate test results to family members, impact of communication on family members, and suggestions for genetic counselors and other PCA patients. Interviews were transcribed verbatim and thematic analysis was completed using NVivo software v10. Receipt of PV/LPV or VUS genetic test results was not as emotional as receiving the diagnosis of PCA itself. Seven of the 12 participants chose to share their test results with all relevant family members, 4 chose to share with select family members, and one chose to not disclose to any family members. The majority of family members who were aware of participants' genetic results have not undergone cascade genetic testing or sought cancer screening. Participants with PCA and positive or VUS genetic test results typically share their results with at least immediate family members, but some communication barriers exist. Understanding the best way to provide actionable and relevant information about genetic testing to family members remains a challenge.

Female Sexual Health Training for Oncology Providers: New Applications.

INTRODUCTION: Sexual health care remains an unmet need for women with cancer. Many barriers are described, such as provider discomfort and lack of training; however, there is little evidence-based guidance regarding how to effectively address these obstacles. AIM: This pilot study was performed to determine whether brief, targeted sexual health training for oncology providers results in improved provider comfort level and frequency of addressing female cancer-related sexual issues. METHODS: A brief (30-45 minute), targeted sexual health training program focused on improving comfort level, knowledge and communication skills when addressing breast cancer-related sexual issues was developed by the primary author. Using a pretest-posttest format, this educational program was provided to oncology providers (physicians and nurses/other allied health) from a suburban health-care system. Surveys based on 5-point Likert scales were provided before and 3-6 month post training. MAIN OUTCOME MEASURES: Primary endpoints were changes in mean Likert scores for provider comfort level and self-reported frequency of addressing sexual issues. A secondary endpoint was change in mean Likert scores for perception of access to sexual health resources/referrals. RESULTS: Eligible respondents included 8 oncologists, 4 surgeons, and 62 nurses/other allied health. For total respondents, comparison of mean Likert scores for survey 1 (n = 71) and survey 2 (n = 36) demonstrated statistically significant increases for all parameters queried, including provider comfort level with bringing up (Pre mean Likert score = 3.4, Post = 4.3, P < 0.0001) and coordinating care (Pre = 3.5, Post = 4.6, P < 0.0001), and frequency of addressing sexual issues for both diagnosis/treatment and surveillance phase (Pre = 2.4, Post = 3.3, P ≤ 0.0052). CONCLUSION: Brief, targeted sexual health training for oncology providers positively correlated with improved provider comfort level and frequency of addressing female cancer-related sexual issues.

Cancer genetics evaluation: barriers to and improvements for referral.

Despite the availability of cancer susceptibility testing, little information exists regarding physicians' selection and referral of eligible patients. This study provides insight into whom, why, and when physicians refer for cancer genetics evaluation, as well as their comfort level within this role. Eighty-two physicians (51 primary care, 15 gynecology, 11 surgery and 5 oncology) completed a survey (response rate: 34%) regarding cancer genetics referral practices. Of these, 59% reported an awareness of the hospital's cancer genetics program. Program awareness was greater among oncologists, surgeons, and gynecologists than among primary care physicians (p < 0.0001). Patients were referred for enhanced risk assessment (88%), improved medical management (85%), and concern for family members (83%). Patient eligibility was based on family cancer history (96%), patient cancer history (83%), and patient request (73%). Patients were not referred mainly due to patient disinterest (54%) or physician concern about either insurance coverage (44%) or insurance discrimination (31%). Primary care physicians were less comfortable with identifying patients for referral (p < 0.001) and with discussing genetics (p < 0.002) than specialists. The largest barriers to referral were lack of program awareness and limited knowledge regarding patient eligibility, improved insurance coverage, and antidiscrimination legislation. Physician-targeted marketing and education may improve the referral process.

Motivations and concerns of women considering genetic testing for breast cancer: a comparison between affected and at-risk probands.

Since the discovery of the BRCA1 and BRCA2 genes, there has been an increasing demand for breast cancer risk assessment programs. In an effort to understand and serve the population such programs target better, several studies have identified factors influencing high-risk women to pursue breast cancer risk assessment and genetic testing services; none, however, has focused on how the motivations and concerns of at-risk women may differ from their previously affected counterparts, who are typically the initial members of their families to undergo genetic testing. The majority of both previously affected and unaffected women felt that preventative surgery decisions, surveillance practices, the assessment of children's risks, and increased breast cancer anxiety were "more important" or "very important" issues regarding their thoughts about genetic testing. Significantly more affected women deemed family members' opinions "more" or "very important" (p < 0.01). Opinions concerning insurance and employment discrimination did not vary significantly between groups; however, a larger percentage of affected women felt this issue was of importance. Although all issues above should be addressed with women seeking cancer risk assessment and genetic testing, this research may help health care providers to gain a greater understanding of how the motivators and concerns of high-risk women can differ with personal cancer status so that referral, counseling, and education can be executed optimally.