Sequencing

Multiplex SNaPshot—a new simple and efficient CYP2D6 and ADRB1 genotyping method

Human Genomics – Reliable, inexpensive, high-throughput genotyping methods are required for clinical trials. Traditional assays require numerous enzyme digestions or are too expensive for large sample volumes. Our objective was to develop an inexpensive, efficient, and reliable assay for CYP2D6 and ADRB1 accounting for numerous polymorphisms including gene duplications.

An openly available online tool for implementing the ACMG/AMP standards and guidelines for the interpretation of sequence variants

Genetics in Medicine – We have been using the standards and guidelines to classify variants identified using a next-generation sequencing gene panel for individuals with suspected forms of monogenic diabetes, such as maturity-onset diabetes of the young, as part of the Personalized Diabetes Medicine Program, a member project in the National Human Genome Research Institute–funded IGNITE (Implementing Genomics in Practice) Network. This program uses patient characteristics and family history to identify individuals likely to have a monogenic etiology for their diabetes mellitus, which is challenging owing to the similarity of clinical presentation between monogenic diabetes and more common forms of diabetes.

Undiagnosed MODY: Time for Action

Current Diabetes Report – Maturity-Onset Diabetes of the Young (MODY) is a monogenic form of diabetes that accounts for at least 1% of all cases of diabetes mellitus. MODY classically presents as non-insulin requiring diabetes in lean individuals younger than 25 with evidence of autosomal dominant inheritance, but these criteria do not capture all cases and can also overlap with other diabetes types. Genetic diagnosis of MODY is important for selecting the right treatment, yet ~95% of MODY cases in the U.S. are misdiagnosed.

When Participants in Genomic Research Grow Up: Contact and Consent at the Age of Majority

The Journal of Pediatrics – The landscape of pediatric research is becoming more complex. Contemporary research studies, and genome studies in particular, frequently involve a range of research activities. For example, the Clinical Sequencing Exploratory Research (CSER) Consortium studies evaluate whether genomic testing can be useful in clinical settings. These studies include the storage of biosamples for future research, observations about the way providers interact with results reported in electronic health records, and the contribution of data to national databases like ClinVar and the Database of Genotypes and Phenotypes (dbGaP).

Cypiripi: exact genotyping of CYP2D6 using high-throughput sequencing data

Bioinformatics – Response to a large number of clinically prescribed drugs varies significantly among individuals. Although some patients show a good response to a medication, the same treatment might fail in others or cause serious side effects, which can even result in the death of the patient (). In many cases, an individual’s genetic makeup has been recognized as one of the potential causes of treatment failures

Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between

American Journal of Human Genetics – As more research studies incorporate next-generation sequencing (including whole-genome or whole-exome sequencing), investigators and institutional review boards face difficult questions regarding which genomic results to return to research participants and how. An American College of Medical Genetics and Genomics 2013 policy paper suggesting that pathogenic mutations in 56 specified genes should be returned in the clinical setting has raised the question of whether comparable recommendations should be considered in research settings.

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