Correction: Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach.

PURPOSE: To present results from a large cohort of individuals receiving expanded carrier screening (CS) in the United States. METHODS: Single-gene disorder carrier status for 381,014 individuals was determined using next-generation sequencing (NGS) based CS for up to 274 genes. Detection rates were compared with literature-reported values derived from disease prevalence and carrier frequencies. Combined theoretical affected pregnancy rates for the 274 screened disorders were calculated. RESULTS: For Ashkenazi Jewish (AJ) diseases, 81.6% (4434/5435) of carriers identified did not report AJ ancestry. For cystic fibrosis, 44.0% (6260/14,229) of carriers identified had a variant not on the standard genotyping panel. Individuals at risk of being a silent spinal muscular atrophy carrier, not detectable by standard screening, comprised 1/39 (8763/344,407) individuals. For fragile X syndrome, compared with standard premutation screening, AGG interruption analysis modified risk in 83.2% (1128/1356) premutation carriers. Assuming random pairing across the study population, approximately 1/175 pregnancies would be affected by a disorder in the 274-gene screening panel. CONCLUSION: Compared with standard screening, NGS-based CS provides additional information that may impact reproductive choices. Pan-ethnic CS leads to substantially increased identification of at-risk couples. These data support offering NGS-based CS to all reproductive-aged women.

Familial risk for chronic disease and intent to share family history with a health care provider among urban Appalachian women, southwestern Ohio, 2007.

INTRODUCTION: Family history of certain chronic diseases is a risk factor for those diseases. We assessed demographic characteristics associated with familial risk for common diseases and whether familial risk was associated with intent to share family history with a health care provider among urban Appalachian women. METHODS: Urban Appalachian women (N = 88) with less than a college education participated in education sessions about family history in health promotion in southwest Ohio. Participants used My Family Health Portrait, electronically or on paper, to document their level of familial risk. Evaluations completed after each session gauged intent to share family history with a health care provider. RESULTS: Participants who used the paper version of My Family Health Portrait had lower odds of high familial risk for diabetes, heart disease, and stroke. Most participants (n = 62, 77%) reported that they intended to share their family history with a health care provider. Factors associated with intent to share family history included younger age, use of the electronic family history tool, and high familial risk of heart disease. CONCLUSION: The large proportion of women who intended to share family history with a health care provider may reflect the success of the educational component. Since familial risk for chronic disease is high among these urban Appalachian women, the need to share family history should continue to be promoted.

A family history demonstration project among women in an urban Appalachian community.

BACKGROUND: Family health history (FHH) is promoted to consumers by the Surgeon General as a tool to improve health and prevent disease. However, few FHH resources exist for medically underserved populations such as the urban Appalachian community in Southwest Ohio. OBJECTIVES: To engage and educate urban Appalachian women about the importance and collection of their own FHH. METHODS: Researchers partnered with six community organizations to develop a model Family History Demonstration Project. Focus groups were held with urban Appalachian women to determine how they would like to learn about their FHH. Resources and an educational intervention were developed based on focus group findings with input from the academic and community partners. Participants in the project recorded their family history and evaluated the education sessions and materials. RESULTS: Eleven fact sheets and four educational presentations were developed based on feedback from the target community. One hundred women participated in two family history education sessions. Learning objectives for both education sessions were met. All participants recorded their family history electronically or on paper and 91% of participants found the first education session (ES1) very helpful at teaching the importance of FHH. CONCLUSIONS: Community organizations and university researchers partnered to develop a model Family History Demonstration Project with input from community members. Evaluations of the project were positive. Future efforts should focus on sustainable dissemination of the educational programs and resulting health outcomes.

Employability of genetic counselors with a PhD in genetic counseling.

The development of a PhD in genetic counseling has been discussed for more than 20 years, yet the perspectives of employers have not been assessed. The goal of this qualitative study was to gain an understanding of the employability of genetic counselors with a PhD in genetic counseling by conducting interviews with United States employers of genetic counselors. Study participants were categorized according to one of the following practice areas: academic, clinical, government, industry, laboratory, or research. All participants were responsible for hiring genetic counselors in their institutions. Of the 30 employers interviewed, 23 envisioned opportunities for individuals with a PhD degree in genetic counseling, particularly in academic and research settings. Performing research and having the ability to be a principal investigator on a grant was the primary role envisioned for these individuals by 22/30 participants. Employers expect individuals with a PhD in genetic counseling to perform different roles than MS genetic counselors with a master's degree. This study suggests there is an employment niche for individuals who have a PhD in genetic counseling that complements, and does not compete with, master's prepared genetic counselors.