Publications by authors named "Amanda Merkelson"
Understanding attitudes towards genetic exceptionalism and confidentiality is important in guiding policies regarding special protections for genetic/genomic information stored in electronic health records (EHR). The goals of this study were to determine biobank participants' attitudes towards genetic exceptionalism and confidentiality and whether those attitudes are related to their preference for return of genetic results. An online questionnaire was distributed to patients with an EHR and email address who had previously enrolled in the BioMe Biobank program.
View Article and Find Full Text PDFArticle Synopsis
- - Population-based genomic screening has the potential to improve health outcomes for diverse populations, but there's a need for more research, especially for those with non-European ancestry, which are often underrepresented in genomics.
- - A pilot program at the BioMe Biobank in NYC focused on screening for genetically linked conditions like hereditary breast and ovarian cancer, Lynch syndrome, familial hypercholesterolemia, and included the TTR gene relevant for those with African ancestry.
- - Results showed that the majority of participants receiving results for the TTR gene were African American or Hispanic/Latinx, with a high interest (over 93%) in receiving genomic results, especially among younger individuals and women.
Achieving confidence in the causality of a disease locus is a complex task that often requires supporting data from both statistical genetics and clinical genomics. Here we describe a combined approach to identify and characterize a genetic disorder that leverages distantly related patients in a health system and population-scale mapping. We utilize genomic data to uncover components of distant pedigrees, in the absence of recorded pedigree information, in the multi-ethnic Bio biobank in New York City.
View Article and Find Full Text PDFIdentifying modifiers of glioma risk in patients with type I neurofibromatosis (NF1) could help support personalized tumor surveillance, advance understanding of gliomagenesis, and potentially identify novel therapeutic targets. Here, we report genetic polymorphisms in the human adenylate cyclase gene adenylate cyclase 8 (ADCY8) that correlate with glioma risk in NF1 in a sex-specific manner, elevating risk in females while reducing risk in males. This finding extends earlier evidence of a role for cAMP in gliomagenesis based on results in a genetically engineered mouse model (Nf1 GEM).
View Article and Find Full Text PDFBackground: Activation of the RAS-RAF-MEK-ERK signaling pathway is thought to be the key driver of pediatric low-grade astrocytoma (PLGA) growth. Sorafenib is a multikinase inhibitor targeting BRAF, VEGFR, PDGFR, and c-kit. This multicenter phase II study was conducted to determine the response rate to sorafenib in patients with recurrent or progressive PLGA.
View Article and Find Full Text PDFBackground: Activation of the mammalian target of rapamycin (mTOR) signaling pathway is thought to be a key driver of tumor growth in Merlin (NF2)-deficient tumors. Everolimus is an oral inhibitor of mTOR complex 1 (mTORC1) with antitumor activity in a variety of cancers.
Methods: We conducted a single-institution, prospective, 2-stage, open-label phase II study to estimate the response rate to everolimus in neurofibromatosis type 2 (NF2) patients with progressive vestibular schwannoma (VS).