In the US, the growing demand for precision medicine, particularly in oncology, continues to put pressure on the availability of genetic counselors to meet that demand. This is especially true in certain geographic locations due to the uneven distribution of genetic counselors throughout the US. To assess these disparities, access to genetic counselors of all specialties is explored by geography, cancer type, and social determinants of health. Geospatial technology was used to combine and analyze genetic counselor locations and cancer incidence at the county level across the US, with a particular focus on tumors associated with BRCA mutations including ovarian, pancreatic, prostate and breast. Access distributions were quantified, and associations with region, cancer type, and socioeconomic variables were investigated using correlational tests. Nationally, in 2020, there were 4,813 genetic counselors, or 1.49 genetic counselors per 100,000 people, varying between 0.17 to 5.7 per 100,000 at the state level. Seventy-one percent of U.S. residents live within a 30-minute drive-time to a genetic counselor. Drive-times, however, are not equally distributed across the country – while 82% of people in metropolitan areas are 30 minutes from a genetic counselor, only 6% of people in nonmetro areas live within 30 minutes’ drive time. There are statistically significant differences in access across geographical regions, socioeconomics and cancer types. Access to genetic counselors for cancer patients differs across groups, including regional, socioeconomic, and cancer type. These findings highlight areas of the country that may benefit from increased genetic counseling provider supply, by increasing the number of genetic counselors in a region or by expanding the use of telegenetics a term used to describe virtual genetic counseling consults that occur via videoconference. Policy intervention to allow genetic counselors to bill for their services may be an effective route for increasing availability of genetic counselors’ services However, genetic counselors in direct patient care settings also face other challenges such as salary, job satisfaction, job recognition, overwork/burnout, and appropriate administrative/clinical support, and addressing these issues should also be considered along with policy support. These results could support targeted policy reform and alternative service models to increase access to identified pockets of unmet need, such as telemedicine. Data and analysis are available to the public through an interactive dashboard1.

Purpose. PTEN Hamartoma Tumor syndrome (PHTS) includes patients with Cowden syndrome or other syndromes with germline mutation of the PTEN tumor suppressor gene. The risk for breast, colorectal, and endometrial cancer and polyposis is increased, creating clinical overlap with hereditary breast and ovarian cancer (HBOC), Lynch syndrome (LS), and adenomatous polyposis syndromes (APS). We reviewed our series of patients with PHTS to determine how often testing criteria for these syndromes were met and how often othergene testing was ordered before testing PTEN. Patients and Methods. Patients were prospectively recruited by relaxed International Cowden Consortium criteria or presence of known germline PTEN mutation. Mutations were identified by mutation scanning/multiplex ligation-dependent probe amplification analysis and confirmed by sequencing/quantitative polymerase chain reaction. Patients were excluded if they were adopted, were Ͻ18 years of age, or if they were diagnosed with Cowden syndrome before 1998.Standard risk-assessment models were applied to determine whether patients met HBOC testing criteria, LS-relevant Amsterdam II/Bethesda 2004 criteria, or had adenomatous polyps. Prior probability of PTEN mutation was estimated with the Cleveland Clinic PTEN risk calculator. Results. Of 137 PTEN mutation-positive adult probands, 59 (43.1%) met testing criteria for HBOC or LS. Of these, 45 (32.8%) were first offered HBOC, LS, or APS testing. Of those who underwent APS testing, none of the six patients met criteria. Initial risk assessment by a genetics specialist was significantly associated with immediate PTEN testing in patients also meeting HBOC testing criteria. Using this PTEN risk assessment tool could have spared gene testing for 22 unlikely syndromes, at a total cost of $66,080. Conclusion. PHTS is an important differential diagnosis for patients referred for HBOC, LS, or APS. Risk assessment tools may help focus genetic analysis and aid in the interpretation of multiplex testing. The Oncologist 2013;18:1083-1090 Implications for Practice: Whereas hereditary breast and ovarian cancer syndrome, Lynch syndrome, and familial adenomatous polyposis are some of the most common causes of hereditary cancer predisposition, other conditions with overlapping clinical spectra exist. Timely identification of the right syndrome is critical for patient management and testing at-risk relatives. When multiple conditions are possible, risk assessment tools help clinicians judge which condition is most likely, allowing genetic testing to proceed in a stepwise and cost-effective manner. Here we present a series of patients with germline mutations of PTEN, a gene causing predisposition to breast, uterine, colorectal, and other cancers as well as to gastrointestinal polyposis. Many patients were tested for another syndrome prior to PTEN testing. Had now-existent risk assessment tools been used, elevated PTEN mutation risk in these patients might have been recognized immediately, leading to health care savings and shor...

Background Research biobanks collect biological samples and health information. Previous work shows that biobank participants desire general study updates, but preferences regarding the method or frequency of these communications have not been explored. Thus, we surveyed participants in a long-standing research biobank. Methods Eligible participants were drawn from a study of patients with personal/family history suggestive of Cowden syndrome, a poorly-recognized inherited cancer syndrome. Participants gave blood samples and access to medical records and received individual results but had no other study interactions. The biobank had 3618 participants at sampling. Survey eligibility included age ≥18 years, enrollment within the biobank’s first five years, normal PTEN analysis, and contiguous United States address. Multivariate logistic regression analyses identified predictors of participant interest in internet-based vs. offline methods and methods allowing participant-researcher interaction vs. one-way communication. Independent variables were narrowed by independent Pearson correlations by cutoff p<0.2, with p<0.02 considered significant. Results Surveys were returned from 840/1267 (66%) eligible subjects. Most (97%) wanted study updates with 92% wanting updates at least once a year. Participants preferred paper (66%) or emailed (62%) newsletter methods with 95% selecting one of these. Older, less-educated, and lower-income respondents strongly preferred offline approaches (p<0.001). Most (93%) had no concerns about receiving updates and 97% were willing to provide health updates to researchers. Conclusion Most participants were comfortable receiving and providing updated information. Demographic factors predicted communication preferences. Impact Researchers should make plans for ongoing communication early in study development and funders should support the necessary infrastructure for these efforts.