A survey of genetic counselors about the needs of 18-25 year olds from families with hereditary breast and ovarian cancer syndrome.

As a result of modern treatments, the life of women who test positive for BRCA mutations may be plotted along the arc of preventive medicine rather than the slope of diagnostics. Despite evidence supporting the benefits of risk reduction, protocols for early detection and prevention among women from families affected by hereditary breast and ovarian cancer (HBOC) are not yet proven, and clinical trials have not been undertaken for patients aged 18 to 25. The absence of psychosocial data may leave genetic counselors without uniform guidance on how to manage the care of these patients. This project sought to investigate perspectives on counseling 18-25 year-old patients from families with hereditary cancer syndromes, with specific emphasis on HBOC, given their unique developmental, familial, and medical challenges. Certified genetic counselors were recruited through the NSGC's Cancer Genetics Special Interest Group listserv. Researchers constructed an online survey which included 41 items and elicited information about: counselor demographics, training, and practice settings; approaches to cancer risk assessment; and common challenges in work with 18- to 25-year-old patients. The survey was also informed by previous work by researchers with 18 to 25-year-olds with BRCA gene mutations. Eighty-six surveys were completed. Researchers used a combination of grounded theory and content analysis for open-ended responses, supported and triangulated with statistical analysis to maximize the interpretation of data. Genetic counselors who responded to this survey experience 18-25 year old patients presenting for cancer risk assessment differently than older patients, and some reported adapting their counseling style to address these differences. Respondents differed in the extent to which they felt well-versed in the developmental needs of patients in this age group. Respondents aged 39 and under reported feeling familiar with this stage in life, having more recently completed it; respondents aged 40 and over reported they were less familiar with, and more interested in learning about, this age group. A primary challenge in cancer risk assessment of these patients, reported primarily by counselors aged 39 and under, is navigating family dynamics in counseling sessions and addressing the developmentally labile young adult. With respect to BRCA-related cancer risk, where penetrance is incomplete, onset in early adulthood is rare. Evidence-based treatment/prevention options exist, but providers may not have clarity regarding how or when to provide directive counsel. A rich understanding of the themes inherent in how people grow and change over time might enhance the counselor's capacity to assess patients and their family members. The integration of a developmental approach to genetic counseling has the potential to reduce the imperative for non-directive counseling.

Iona college community centered family health history project: lessons learned from student focus groups.

The Community Centered Family Health History project was initiated to create accessible family health history tools produced by and for the community. The project goal was to promote increased community engagement in health education by encouraging conversations among family members that would translate knowledge of family health history into healthy lifestyle choices. As one of seven community partners, Iona College participated in customizing and beta-testing the Does It Run in the Family? toolkit. Twenty-nine college students were engaged to recruit three relatives related by blood to provide feedback on the utility of the toolkit. The toolkit consists of two booklets--"A Guide to Family Health History" and "A Guide to Understanding Genetics and Health"--explaining the importance of knowing and talking about health within the family as well as basics about how conditions are passed down through generations. Twenty-two of the twenty-nine students participated in focus groups to discuss their reactions to participation in the project. Students in the focus group reported that the study participants--students and their family members--found the toolkit to be user friendly and the experience a valuable one that prompted many to take positive steps toward good health.

The emerging role of genetics professionals in forensic kinship DNA identification after a mass fatality: lessons learned from Hurricane Katrina volunteers.

PURPOSE: To explore the experience of medical genetics professionals who volunteered in the DNA identification efforts after Hurricane Katrina to identify "lessons learned" and plan for future recovery efforts. METHODS: A web-based survey was administered to volunteers in the Fall of 2007. RESULTS: Sixty-six individuals (75%) completed the survey. Eighty-six percent volunteered because they felt their skills as genetics professional were needed and 46% desired additional training on the molecular aspects of kinship analysis. Most (97%) reported that they would like to see the genetics community become actively involved in further developing the role of genetics professionals in mass fatality response. All respondents (100%) would volunteer again. CONCLUSION: Developing a registry of volunteers and educational materials tailored to the needs of genetics professionals should be explored as a mechanism to prepare the genetics community to play an active role in future mass fatality response.

Understanding the Basics of NGS: From Mechanism to Variant Calling.

Identifying disease-causing mutations in DNA has long been the goal of genetic medicine. In the last decade, the toolkit for discovering DNA variants has undergone rapid evolution: mutations that were historically discovered by analog approaches like Sanger sequencing and multiplex ligation-dependent probe amplification ("MLPA") can now be decoded from a digital signal with next-generation sequencing ("NGS"). Given the explosive growth of NGS-based tests in the clinic, it is of the utmost importance that medical practitioners have a fundamental understanding of the newest NGS methodologies. To that end, here we provide a very basic overview of how NGS works, with particular emphasis on the close resemblance between the underlying chemistry of Sanger sequencing and NGS. Using a pair of simple analogies, we develop an intuitive framework for understanding how high-confidence detection of single-nucleotide polymorphisms, indels, and large deletions/duplications is possible with NGS alone.

Family stories: narrative genetics and conceptions of heritability in pregnant women.

As our understanding of genetics has grown, and its importance has increased in clinical care, pregnancy and the fetus are often seen through a genetic lens. Clinicians who care for pregnant women are charged with explaining genetic risk and overseeing prenatal screening. For the clinician, genetics represents clearly defined application of a particular kind of scientific knowledge. Further, heritability in clinical terms is understood as purely genetic. Pregnant women themselves, however, may not give these genetic explanations the same primacy or meaning. In order to better understand the way pregnant women actually understand and explain heritability, we completed in-depth interviews with 26 pregnant women, listening as they gave weight and substance to the various factors they describe as influencing the personhood of their unborn children. Two-thirds of our respondents were Hispanic or African American. Most were recruited through programs that serve low-income women. The interviews were coded and analyzed by using categories that emerged directly from the narratives captured in the interviews and that revealed the broad, cross-cutting, overlapping parameters of women's deeply-held beliefs about heritability. These stories represent narratives of heritability that are profoundly familial and cultural. They incorporate belief in the authoritative knowledge of medicine-including any genetic information-into a complex and usually multicultural context, woven together by ancestry, household, and community.