RESUMEN
PURPOSE: This study aimed to evaluate uptake and follow-up using internet-assisted population genetic testing (GT) for BRCA1/2 Ashkenazi Jewish founder pathogenic variants (AJPVs). METHODS: Across 4 cities in the United States, from December 2017 to March 2020, individuals aged ≥25 years with ≥1 Ashkenazi Jewish grandparent were offered enrollment. Participants consented and enrolled online with chatbot and video education, underwent BRCA1/2 AJPV GT, and chose to receive results from their primary care provider (PCP) or study staff. Surveys were conducted at baseline, at 12 weeks, and annually for 5 years. RESULTS: A total of 5193 participants enrolled and 4109 (79.1%) were tested (median age = 54, female = 77.1%). Upon enrollment, 35.1% of participants selected a PCP to disclose results, and 40.5% of PCPs agreed. Of those tested, 138 (3.4%) were AJPV heterozygotes of whom 21 (15.2%) had no significant family history of cancer, whereas 86 (62.3%) had a known familial pathogenic variant. At 12 weeks, 85.5% of participants with AJPVs planned increased cancer screening; only 3.7% with negative results and a significant family history reported further testing. CONCLUSION: Although continued follow-up is needed, internet-enabled outreach can expand access to targeted GT using a medical model. Observed challenges for population genetic screening efforts include recruitment barriers, improving PCP engagement, and increasing uptake of additional testing when indicated.
Asunto(s)
Neoplasias de la Mama , Neoplasias Ováricas , Adulto , Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/genética , Estudios de Cohortes , Femenino , Predisposición Genética a la Enfermedad , Pruebas Genéticas/métodos , Humanos , Internet , Judíos/genética , Masculino , Persona de Mediana Edad , Mutación , Neoplasias Ováricas/diagnóstico , Neoplasias Ováricas/genética , Estados UnidosRESUMEN
PURPOSE: To examine the magnitudes of score differences across different demographic groups for three academic (grade point average [GPA], old Medical College Admission Test [MCAT], and MCAT 2015) and one nonacademic (situational judgment test [SJT]) screening measures and one nonacademic (multiple mini-interview [MMI]) interview measure (analysis 1), and the demographic implications of including an SJT in the screening stage for the pool of applicants who are invited to interview (analysis 2). METHOD: The authors ran the analyses using data from New York Medical College School of Medicine applicants from the 2015-2016 admissions cycle. For analysis 1, effect sizes (Cohen d) were calculated for GPA, old MCAT, MCAT 2015, CASPer (an online SJT), and MMI. Comparisons were made across gender, race, ethnicity (African American, Hispanic/Latino), and socioeconomic status (SES). For analysis 2, a series of simulations were conducted to estimate the number of underrepresented in medicine (UIM) applicants who would have been invited to interview with different weightings of GPA, MCAT, and CASPer scores. RESULTS: A total of 9,096 applicants were included in analysis 1. Group differences were significantly smaller or reversed for CASPer and MMI compared with the academic assessments (MCAT, GPA) across nearly all demographic variables/indicators. The simulations suggested that a higher weighting of CASPer may help increase gender, racial, and ethnic diversity in the interview pool; results for low-SES applicants were mixed. CONCLUSIONS: The inclusion of an SJT in the admissions process has the potential to widen access to medical education for a number of UIM groups.
