Medical and psychosocial outcomes of state-funded population genomic screening.

As the uptake of population screening expands, assessment of medical and psychosocial outcomes is needed. Through the Alabama Genomic Health Initiative (AGHI), a state-funded genomic research program, individuals received screening for pathogenic or likely pathogenic variants in 59 actionable genes via genotyping. Of the 3874 eligible participants that received screening results, 858 (22%) responded to an outcomes survey. The most commonly reported motivation for seeking testing through AGHI was contribution to genetic research (64%). Participants with positive results reported a higher median number of planned actions (median = 5) due to AGHI results as compared to negative results (median = 3). Interviews were conducted with survey participants with positive screening results. As determined by certified genetic counselors, 50% of interviewees took appropriate medical action based on their result. There were no negative or harmful actions taken. These findings indicate population genomic screening of an unselected adult population is feasible, is not harmful, and may have positive outcomes on participants now and in the future; however, further research is needed in order to assess clinical utility.

Recruiting diversity where it exists: The Alabama Genomic Health Initiative.

Lack of diversity among genomic research participants results in disparities in benefits from genetic testing. To address this, the Alabama Genomic Health Initiative employed community engagement strategies to recruit diverse populations where they lived. In this paper, we describe our engagement techniques and recruitment strategies, which resulted in significant improvement in representation of African American participants. While African American participation has not reached the representation of this community as a percentage of Alabama's overall population (26%-27%), we have achieved an overall representation exceeding 20% for African Americans. We believe this demonstrates the value of engagement and recruitment where diverse populations reside.

Visual Representation of Body Shape in African-American and European American Women: Clinical Considerations.

BACKGROUND: Body mass index (BMI) has been used widely among clinicians to assess obesity in their patients due to its ease and availability. However, BMI has some diagnostic limitations and other measures related to health risks; in particular, body shape may be of greater relevance to health outcomes. OBJECTIVE: The objective of this study was to illustrate the importance of body shape assessments above and beyond BMI and its relationship to health risk among a sample of African-American and European American women. METHODS: African-American and European American women aged 19-78 years (n = 552) in Birmingham, Alabama, were recruited and stratified by menopausal status (ie, pre- or postmenopausal). Pictorial body shapes were derived from digital photographs, while body fat distribution defined by android-gynoid ratio (AGR) and body composition were obtained from dual-energy X-ray absorptiometry. RESULTS: Images of BMI and age-matched women illustrate variability in fat distribution. Among both menopausal status groups, more than 50% of women had a pear body shape (AGR < 1). An apple body shape was associated with higher odds of having diabetes (unadjusted odds ratio [OR]: 4.1, 95% confidence interval [CI]: 1.9-9.3), hypertension (unadjusted OR: 3.1, 95% CI: 2.0-4.7), and high cholesterol (unadjusted OR: 3.0, 95% CI: 1.8-5.1). CONCLUSION: Use of visual cues alongside traditional methods of weight status assessment may help to facilitate weight management conversations between physicians and female patients. However, next steps should include the validation of visual assessments of body shape in women for use by physicians.