COVID-19 and the adaptive evolution of genetic counseling.

Emerging diseases such as the Coronavirus Disease (COVID-19) have exposed severe weaknesses in the United States and global health. Healthcare systems have struggled and are still severely challenged and strained by this pandemic. It is clear that additional resources are needed to support healthcare providers in managing this and future pandemics.

Evaluation of an automated process for disclosure of negative noninvasive prenatal test results.

We designed and implemented a novel automated negative non-invasive prenatal test (NIPT) result disclosure process using a proprietary, HIPAA-compliant web-based portal. High-risk pregnant patients who opted for NIPT from 04/2017 to 12/2018 were given the option to receive their negative result through the automated process. Patients were required to watch a brief educational video and answer evaluative questions before downloading their result.

Variant c.2262A>C in DOCK9 Leads to Exon Skipping in Keratoconus Family.

Purpose: Keratoconus (KTCN) is a degenerative disorder of the eye that is characterized by a conical shape and thinning of the cornea, resulting in impaired visual function. Previously, we identified heterozygous single base-pair substitutions in DOCK9, IPO5, and STK24, showing concurrent 100% segregation with the affected phenotype in an Ecuadorian family. As the pathogenic consequences of these variants were not obvious, we performed in vitro splicing analyses to determine their functional significance.

Substitution at IL1RN and deletion at SLC4A11 segregating with phenotype in familial keratoconus.

Purpose: Keratoconus (KTCN) is a thinning and anterior protrusion of the cornea that results in altered refractive powers and loss of visual acuity. Despite numerous studies, the reasons for development and progression of KTCN remain unknown. Genetic studies have led to identification of several loci linked with KTCN, including a locus in one multigenerational Ecuadorian family.

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.

Purpose: A number of genes in the 9q34.11 region may be haploinsufficient. However, studies analyzing genotype-phenotype correlations of deletions encompassing multiple dosage-sensitive genes in the region are lacking.