Melissa Wasserstein
YOU?
Author Swipe
View article: Investigating the Impact of Screen-Sharing Visual Aids during Genomic Results Disclosure via Telehealth in Diverse Families in the TeleKidSeq Pilot Study
Investigating the Impact of Screen-Sharing Visual Aids during Genomic Results Disclosure via Telehealth in Diverse Families in the TeleKidSeq Pilot Study Open
Introduction: Telehealth genetic counseling is comparable to in-person visits in terms of satisfaction, knowledge, and psychological outcomes, but using visual aids can be challenging on telehealth platforms. This pilot study assessed if t…
View article: Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individuals
Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individuals Open
Background: Acid sphingomyelinase deficiency (ASMD) and Gaucher disease type 1 (GD1) are rare inherited sphingolipid disorders with multisystemic manifestations, including liver disease and dyslipidemia. Despite effective treatments, insuf…
View article: P500: Optimizing consent: An analysis of recruitment data for the first 11,000 consented ScreenPlus parents
P500: Optimizing consent: An analysis of recruitment data for the first 11,000 consented ScreenPlus parents Open
Obtaining parental informed consent for pilot newborn screening (NBS) studies is fundamental for a successful program but presents substantial challenges. Effective parental engagement and education demand significant resource allocation, …
View article: P874: Parental perspectives and experiences on the implications of expanded and universal newborn screening
P874: Parental perspectives and experiences on the implications of expanded and universal newborn screening Open
Newborn screening (NBS) is in its 60th year of providing early detection, diagnosis and intervention for a select panel of conditions. Most infants in the US are screened for at least 40 serious but treatable disorders. ScreenPlus is a pil…
View article: The motivation and process for developing a consortium‐wide time and motion study to estimate resource implications of innovations in the use of genome sequencing to inform patient care
The motivation and process for developing a consortium‐wide time and motion study to estimate resource implications of innovations in the use of genome sequencing to inform patient care Open
Costs of implementing genomic testing innovations extend beyond the cost of sequencing, affecting personnel and infrastructure for which little data are available. We developed a time and motion (T&M) study within the Clinical Sequencing E…
View article: Clinical variants paired with phenotype: A rich resource for brain gene curation
Clinical variants paired with phenotype: A rich resource for brain gene curation Open
A significant proportion of clinical variants that are novel or uncertain are not shared, limiting the evidence base for new gene-disease relationships. Registration of paired clinical genetic test results with phenotype has the potential …
View article: The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations
The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations Open
The Clinical Sequencing Evidence-Generating Research (CSER) consortium, now in its second funding cycle, is investigating the effectiveness of integrating genomic (exome or genome) sequencing into the clinical care of diverse and medically…
View article: P1483: LONG-TERM IMPACT OF OLIPUDASE ALFA ENZYME REPLACEMENT THERAPY ON SPLEEN VOLUME AND HEMATOLOGIC MANIFESTATIONS IN CHILDREN AND ADULTS WITH CHRONIC ACID SPHINGOMYELINASE DEFICIENCY
P1483: LONG-TERM IMPACT OF OLIPUDASE ALFA ENZYME REPLACEMENT THERAPY ON SPLEEN VOLUME AND HEMATOLOGIC MANIFESTATIONS IN CHILDREN AND ADULTS WITH CHRONIC ACID SPHINGOMYELINASE DEFICIENCY Open
Topic: 32. Platelet disorders Background: Acid sphingomyelinase deficiency (ASMD), historically known as Niemann-Pick disease types A and B, is an underrecognized and debilitating lysosomal storage disease. Deficient ASM activity results i…
View article: The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic counseling in racially and ethnically diverse families
The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic counseling in racially and ethnically diverse families Open
Background Digital solutions are needed to support rapid increases in the application of genetic and genomic tests (GT) in diverse clinical settings and patient populations. We developed GUÍA, a bi-lingual web-based platform that facilitat…
View article: Identification of copy number variants with genome sequencing: Clinical experiences from the <scp>NYCKidSeq</scp> program
Identification of copy number variants with genome sequencing: Clinical experiences from the <span>NYCKidSeq</span> program Open
Copy number variations (CNVs) play a significant role in human disease. While chromosomal microarray has traditionally been the first‐tier test for CNV detection, use of genome sequencing (GS) is increasing. We report the frequency of CNVs…
View article: Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B) Open
Background Acid Sphingomyelinase Deficiency (ASMD) is a rare autosomal recessive disorder caused by mutations in the SMPD1 gene. This rarity contributes to misdiagnosis, delayed diagnosis and barriers to good care. There are no published n…
View article: The TeleKidSeq pilot study: incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencing
The TeleKidSeq pilot study: incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencing Open
Background The COVID-19 pandemic forced healthcare institutions and many clinical research programs to adopt telehealth modalities in order to mitigate viral spread. With the expanded use of telehealth, there is the potential to increase a…
View article: Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients Open
Purpose Adoption of genome sequencing (GS) as a first-line test requires evaluation of its diagnostic yield. We evaluated the GS and targeted gene panel (TGP) testing in diverse pediatric patients (probands) with suspected genetic conditio…
View article: When is the best time to screen and evaluate for treatable genetic disorders?: A lifespan perspective
When is the best time to screen and evaluate for treatable genetic disorders?: A lifespan perspective Open
This paper focuses on the question of, “When is the best time to identify an individual at risk for a treatable genetic condition?” In this review, we describe a framework for considering the optimal timing for pursuing genetic and genomic…