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Clinical Standards Needed

The Utah Foundation for Biomedical Research's Gholson Lyon was busy in 2009, trying to identify the genetic causes behind a rare disease affecting baby boys in a family in Ogden, Utah. But, as he says in a Nature commentary, this week, he was hesitant to tell the family what he found because the research he did didn't follow the protocols required for validated clinical testing, and he wasn't sure the individual results were accurate.

The expansion of genomics into medicine is showing that it's time for researchers to "create a formalized protocol akin to the rigorous process that doctors and other health-care workers go through during any clinical lab test, which practically eliminates the chances of mistakes and mix-ups," Lyon says. "In this way, when participants want to know what we know, we will feel confident that what we tell them is correct." Scientists conducting human genetics research are not under CLIA regulations, he adds, but perhaps there should be a similar standard for researchers. "This means establishing suitable guidelines for the collection, tracking and sequencing of DNA samples from human participants, along with training health-care professionals in genetics counseling," Lyon writes.

The Scan

Study Links Genetic Risk for ADHD With Alzheimer's Disease

A higher polygenic risk score for attention-deficit/hyperactivity disorder is also linked to cognitive decline and Alzheimer's disease, a new study in Molecular Psychiatry finds.

Study Offers Insights Into Role of Structural Variants in Cancer

A new study in Nature using cell lines shows that structural variants can enable oncogene activation.

Computer Model Uses Genetics, Health Data to Predict Mental Disorders

A new model in JAMA Psychiatry finds combining genetic and health record data can predict a mental disorder diagnosis before one is made clinically.

Study Tracks Off-Target Gene Edits Linked to Epigenetic Features

Using machine learning, researchers characterize in BMC Genomics the potential off-target effects of 19 computed or experimentally determined epigenetic features during CRISPR-Cas9 editing.