The duty to warn at-risk relatives-The experience of genetic counselors and medical geneticists.

Studies published over 15 years ago surveyed genetic counselors (GC) and medical geneticists (MG) to examine their clinical experiences with the conflict of "duty to warn" versus patient confidentiality. Federal and state laws pertaining to medical professionals' duty to warn have since been implemented following the publications of these studies. Using a merged version of surveys employed in the prior studies, this study seeks to understand clinicians' current decision-making process when faced with patient refusal to inform at-risk relatives, as well as their familiarity with and opinions of laws and guidelines covering this issue. Consistent with the previous studies, the majority of MG and almost half of GC experience patient refusal. Significantly, fewer MG and GC believe they had a duty to warn their patients' relatives of genetic risk. Only 8% of participants believe current guidelines effectively address the issue of duty to warn. Participant awareness of federal or state laws regulating the disclosure of genetic information remains low. The conflict of duty to warn remains a shared experience among genetics professionals, and resources are needed to facilitate informed decision-making. Participants' opinions of current policies and clinical decisions may guide professional actions regarding duty to warn.

Undergraduate Student Perceptions and Awareness of Genetic Counseling.

Genetic counseling is a rapidly expanding field, and the supply of certified genetic counselors is currently unable to keep up with job demand. Research is fairly limited regarding the awareness and perceptions that prospective genetic counseling students have on the field and what factors most influence their interest. The current study includes data collected from 1389 undergraduate students in the sciences at 23 universities across the United States who were surveyed regarding information related to their awareness, perceptions, knowledge, and interest in genetic counseling. The majority of participants had heard of genetic counseling (78.0%), many from a high school course (37.3%), college course (28.1%), or online (11.5%). Familiarity was associated with factors such as female gender (p = 0.003) and length of time in school (p < 0.001). After taking the survey, participant interest was positively associated with several factors including female gender (p < 0.001) and Asian and Hispanic ethnicity (p = 0.012). Factors commonly reported as attractive about the field included direct patient care, the variety of roles available, cultural competency and psychosocial training, and helping others. Discussion elaborates upon specific factors related to student awareness and interest in genetic counseling and potential ways to tailor recruitment strategies for maximum benefit to the field.

Association of Vitamin D Receptor Polymorphisms With the Risk of Nonmelanoma Skin Cancer in Adults.

IMPORTANCE: Protective effects of UV-B radiation against nonmelanoma skin cancer (NMSC) are exerted via signaling mechanisms involving the vitamin D receptor (VDR). Recent studies have examined single-nucleotide polymorphisms (SNPs) in the VDR, resulting in contradictory findings as to whether these polymorphisms increase a person's risk for NMSC. OBJECTIVE: To examine whether the polymorphisms in the VDR gene are associated with the development of NMSC and the demographic characteristics of the participants. DESIGN, SETTING, AND PARTICIPANTS: This case-control study recruited 100 individuals who received a diagnosis of and were being treated for basal cell carcinoma or squamous cell carcinoma (cases) and 100 individuals who were receiving treatment of a condition other than skin cancer (controls) at the dermatology clinics at the Kirklin Clinic of the University of Alabama at Birmingham Hospital between January 1, 2012, and December 31, 2014. All participants completed a questionnaire that solicited information on skin, hair, and eye color; skin cancer family history; and sun exposure history, such as tanning ability and number of severe sunburns experienced throughout life. Blood samples for DNA genotyping were collected from all participants. MAIN OUTCOMES AND MEASURES: Polymorphisms in the VDR gene (ApaI, BsmI, and TaqI) were assessed to determine the association of polymorphisms with NMSC development and demographic characteristics. χ2 Analysis was used to determine whether genotype frequencies deviated significantly from Hardy-Weinberg equilibrium. Logistic regression was used to calculate odds ratios (ORs) and associated 95% CIs for the identification of factors associated with NMSC diagnosis. A model was created to predict NMSC diagnoses using known risk factors and, potentially, VDR SNPs. RESULTS: A total of 97 cases and 100 controls were included. Of the 97 cases, 68 (70%) were men and 29 (30%) were women, with a mean (SD) age of 70 (11) years. Of the 100 controls, 46 (46%) were men and 54 (54%) were women, with a mean (SD) age of 63 (9) years. All participants self-identified as non-Hispanic white. A model including age, sex, and skin color was created to most effectively predict the incidence of skin cancer. Risk factors that significantly increased the odds of an NMSC diagnosis were light skin color (OR, 5.79 [95% CI, 2.79-11.99]), greater number of severe sunburns (OR, 2.59 [95% CI, 1.31-5.10]), light eye color (OR, 2.47 [95% CI, 1.30-4.67]), and less of an ability to tan (OR, 2.35 [95% CI, 1.23-4.48]). The risk factors of family history of NMSC (OR, 1.66 [95% CI, 0.90-3.07]) and light hair color (OR, 1.17 [95% CI, 0.51-2.71]) did not reach statistical significance. Participants with the BsmI SNP were twice as likely to develop NMSC than participants with no mutation (OR, 2.04 [95% CI, 1.02-4.08]; P = .045). CONCLUSIONS AND RELEVANCE: The results of this study are especially useful in the early treatment and prevention of NMSC with chemopreventive agents (for those with the BsmI SNP). A screening for the BsmI SNP may emphasize the importance of sun protection and facilitate skin cancer prevention and, therefore, decrease the skin cancer burden.