Genetic disease risks of under-represented founder populations in New York City.

The detection of founder pathogenic variants, those observed in high frequency only in a group of individuals with increased inter-relatedness, can help improve delivery of health care for that community. We identified 16 groups with shared ancestry, based on genomic segments that are shared through identity by descent (IBD), in New York City using the genomic data of 25,366 residents from the All Of Us Research Program and the Mount Sinai Bio biobank. From these groups we defined 8 as founder populations, mostly communities currently under-represented in medical genomics research, such as Puerto Rican, Garifuna and Filipino/Pacific Islanders.

Chromosomal microarray in prenatal diagnosis: case studies and clinical challenges.

Chromosomal microarray analysis (CMA) is a diagnostic tool used in the evaluation of pediatric patients with congenital anomalies or developmental and intellectual disability. In both the pediatric and prenatal patient population, CMA has been shown to have a higher detection rate of chromosomal abnormalities than conventional karyotype alone. Currently, the diagnostic yield of prenatal CMA is highest when applied to the evaluation of a fetus with multiple ultrasound anomalies.

Prenatal screening for fragile x: carriers, controversies, and counseling.

In addition to causing developmental disability in future offspring, fragile X carrier status has important reproductive and mental health implications for the individual being tested. Accordingly, prenatal carrier screening and diagnosis using DNA-based molecular methods has become crucial in early detection, intervention, and family planning. Although the list of known genetic disorders is growing daily, controversy remains over who should be tested for fragile X.

Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutation.

The ability to establish genetic risk models is critical for early identification and optimal treatment of breast cancer. For such a model to gain clinical utility, more variants must be identified beyond those discovered in previous genome-wide association studies (GWAS). This is especially true for women at high risk because of family history, but without BRCA1/2 mutations.

Best practices: antenatal screening for common genetic conditions other than aneuploidy.

Purpose Of Review: Carrier screening aims to identify asymptomatic heterozygotes of heritable disorders and has a vital, ever-changing role in its application to the prenatal detection of disease. An explosion of new technologies for the identification of single-gene disorders challenges our ability to evaluate each individual test prior to its introduction into the private and public sectors.

Recent Findings: The efficacy of carrier screening is dependent on several factors including the validity of the test, the incidence of disease within the community, and as many genetic disorders segregate along ethnic and racial lines, which populations should be offered testing.

Sibling and self ovum donation for sisters with an intermediate FMR1 mutation: what's a program to do?

Objective: To increase awareness of the unique clinical and ethical considerations invoked by the request of a patient with premature ovarian failure (POF) and her nulliparous sister, both with intermediate-size mutations in fragile X mental retardation 1 (FMR1), to pursue sibling ovum donation.

Design: Case report.

Setting: Academic medical center.