Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.

Background: In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) developed standardized variant curation guidelines for Mendelian disorders. Although these guidelines have been widely adopted, they are not gene- or disease-specific. To mitigate classification discrepancies, the Clinical Genome Resource FBN1 variant curation expert panel (VCEP) was established in 2018 to develop adaptations to the ACMG/AMP criteria for FBN1 in association with Marfan syndrome.

Barriers to Interconception Care Delivery in Primary Care: Clinician, Staff, and Patient Perspectives.

Purpose: Many reproductive age women, cared for routinely by primary care providers (PCPs), would benefit from interconception care, yet a minority of primary care visits include interconception care. This study assessed barriers to providing interconception care from the perspective of primary care clinicians, staff, and patients.

Materials And Methods: Clinicians ( = 11), staff ( = 14), and patients eligible for interconception care ( = 6) from three primary care clinics in Chicago, Illinois participated in focus groups or interviews.

Health care transition quadruple aim outcomes for IDD: Scoping review.

Purpose: Structured HCT models addressing planning, transfer, and integration into adult care for adolescents and young adults with childhood-acquired chronic conditions are becoming more prevalent. However, consensus on outcome measures to assess health care transition (HCT) interventions particularly for intellectual and developmental disabilities (IDD) population is lacking. This scoping review identified potential HCT outcome measures for young adults (aged 18-26) with IDD using the Quadruple Aim Framework.

'They Don't Want to Label It': Insights from Communities Not Enrolled in the Network of Age-Friendly States and Communities.

More than 800 municipalities and 11 states and territories in the United States have joined the Network of Age-Friendly States and Communities (NAFSC); however, to our knowledge, no studies have examined the many communities that have not joined. The present study explored the factors that inhibit communities from joining the NAFSC. Data were drawn from semi-structured interviews conducted with 12 community leaders in Massachusetts and Maine.

Dementia-focused programs in older adult centers and health care use among individuals with dementia.

There is growing attention to community-based services for preventing adverse health care outcomes among people aging with dementia. We explored whether the availability of dementia-centered programming within older adult centers (ie, senior centers)-specifically, adult day services (ADS), social adult day centers (SADCs), memory cafes, and caregiver support-is associated with reduced hospitalization, emergency room use, and total Medicare costs for community-dwelling individuals ages 75 and older with Alzheimer's disease and related dementias (ADRD), and whether associations differ by the relative size of the local jurisdiction. We used a novel dataset that links Medicare claims data with data from an organizational census of municipally based Massachusetts older adult centers.