Teaching medical students how to deliver diagnoses of Down syndrome: Utility of an educational tool.

OBJECTIVE: This study assessed whether using an educational tool increased the knowledge and perceived comfort level of first-year medical students in giving a diagnosis of Down syndrome. METHOD: A total of 295 students taking a genetics course completed a knowledge questionnaire and Situations Inventory (aimed at assessing comfort with sharing certain information), prior to and following use of Brighter Tomorrows, a web-based educational module on giving parents a diagnosis of Down syndrome. RESULTS: The pre-intervention mean on the knowledge survey was 3.67, which significantly increased to 5.47 following the intervention. Mean Situational Inventory scores were significantly higher pre-intervention (M = 45.5), which indicates greater discomfort, compared to post-intervention (M = 36.7). Qualitative analysis of responses regarding lessons learned fell into 5 major themes. The most common theme (48% of responses) was related to communication skills. The most frequently cited lesson learned was the importance of demonstrating empathy. CONCLUSIONS: This study found that knowledge and perceived comfort levels of first-year medical students in giving a postnatal diagnosis of Down syndrome were significantly increased following use of an educational tool. PRACTICE IMPLICATIONS: Educational modules can provide medical students with foundational knowledge on providing distressing information to help prepare for future clinical encounters.

Opportunities to improve recruitment into medical genetics residency programs: survey results of program directors and medical genetics residents.

PURPOSE: Approximately 50% of medical genetics residency positions remain unfilled each year. This study was designed to assess current recruitment strategies used by program directors, to identify factors that influenced trainees to choose medical genetics as a career, and to use these results as a foundation to develop a strategic plan to address the challenges of recruitment. METHODS: Two surveys were created, one for program directors and one for current medical genetics residents, to evaluate current recruiting efforts and institutional support for programs and to identify factors that helped trainees choose genetics as a career. RESULTS: Program directors identified the most successful recruiting methods as "direct contact with residents or medical students" and "word of mouth" (80%). Residents listed having a mentor (50%), previous research in genetics (35%), and genetics coursework (33%) as the top reasons that influenced them to enter the field. CONCLUSION: Geneticists should become more proactive in providing resources to students to help them understand a career as a medical geneticist and mentor those students/residents who show true interest in the field. Results of these surveys spurred the development of the Task Force on Medical Genetics Education and Training of the American College of Medical Genetics and Genomics.

Knowledge, attitudes, and beliefs of Arab-American women regarding inherited cancer risk.

The increasing incidence of breast cancer in the Arab world, coupled with a relatively early age of onset, raises concern for the presence of hereditary risk factors in this population. However, due to potential structural and cultural barriers, Arab Americans make up the smallest percentage of individuals tested for Hereditary Breast and Ovarian Cancer Syndrome in the United States. The objectives of this qualitative pilot focus group of 13 Arab-American women were to explore attitudes, knowledge and beliefs regarding hereditary breast cancer in the Arab-American community in metropolitan Detroit, identify barriers that would prevent women from seeking hereditary cancer screening/testing and determine who women would talk to about inherited cancer. Results indicated that cultural beliefs and personal experiences with cancer influenced the women's perspectives on hereditary cancer risk. A high level of secrecy about cancer within Arab-American families was present, which may prevent accurate risk assessment and referral for genetic services. Other identified barriers that may influence hereditary risk assessment included stigma, fears and misconceptions of cancer. While these barriers were present, participants also expressed a strong need for education and tailored cancer risk information for their community.

African American-preponderant single nucleotide polymorphisms (SNPs) and risk of breast cancer.

BACKGROUND: African American women more often present with more aggressive types of breast cancer than Caucasian women, but little is known whether genetic polymorphisms specific to or disproportionate in African Americans are associated with their risk of breast cancer. METHODS: A population-based case-control study was conducted including 194 cases identified through the Metropolitan Detroit Cancer Surveillance System and 189 controls recruited through random digit dialing to examine polymorphisms in genes involved in estrogen metabolism and action. RESULTS: The African American-specific CYP1A1 5639C allele was associated with an increased risk of breast cancer (odds ratio (OR)=2.34, 95% confidence interval (CI) 1.23-4.44) and this association with the CYP1A1 5639 locus was dependent on another polymorphism in the CYP3A4 gene (P=0.043 for the interaction). In addition, African American-predominant CYP1B1 432 Val allele was significantly more often found in the cases than in the controls overall and the HSD17B1 312 Gly allele was specifically associated with premenopausal breast cancer risk (OR=3.00, 95%CI 1.29-6.99). CONCLUSION: These observations need to be confirmed in larger studies due to the limited statistical power of the study based on a small number of cases.

Predictors of decision making in families at risk for inherited breast/ovarian cancer.

OBJECTIVE: The purpose of this study was to identify factors associated with decision making about inherited cancer risk information within families and determine the interdependence between survivors' and relatives' decision making. DESIGN: A descriptive, cross-sectional design using a population-based sample of 146 dyads (N = 292) was used. Analyses included multilevel modeling using the Actor-Partner-Interdependence Model. MAIN OUTCOME MEASURES: Decision making regarding inherited cancer risk information. RESULTS: Several individual and family factors contributed toward survivors' and female relatives' decision making about inherited cancer risk information. Individual factors included the individual's perceptions of their family communication and cancer history. Family factors included survivors' and family members' age, communication and coping style that influenced the decision making of the other member of the dyad. Cancer worries and a monitoring coping style affected both seeking and avoiding decision making for survivors and relatives. CONCLUSIONS: In view of the importance of genetic information upon family health outcomes, it is critical to address both individual and family factors that may influence decision making about cancer risk information and surveillance options for all members within the family.

Risk perception and cancer worries in families at increased risk of familial breast/ovarian cancer.

While families at increased risk for familial breast/ovarian cancer continue to overestimate their cancer risk with increased cancer worries about the future, few studies have examined factors that affect inherited cancer risk perception and cancer worries in both survivors and unaffected female relatives. The purpose of this study was to examine variables that may affect cancer worries and risk perceptions from a family-based perspective in a racially diverse, community-based, random sample of 146 dyads consisting of adult female breast and/or ovarian cancer survivors and their unaffected female relatives (N=292). Results indicated that coping style, self-efficacy, partner's income, family role relationship, and cancer risk perception were significant contributors to the survivors' and their unaffected relatives' cancer worries. Significant variables for perception of cancer risk for both survivors and relatives included income, race, family history of cancer, and cancer worries. Relatives had a higher perception of cancer risk, whereas survivors had more cancer worries. Additionally, the level of cancer worries reported by one member of the dyad was related to the amount of worries reported by the other. The results from this study underscore the importance of clinicians addressing concerns of both affected and unaffected members of families at increased risk of cancer to assist them in managing cancer worries and having realistic risk appraisals to make informed decisions about their own and their family's health surveillance options.