Neil Osterweil

October 13, 2017

ORLANDO — Insights into the origins and pathophysiology of autism and other neurologic and psychologic disorders will be highlighted at the upcoming American Society of Human Genetics (ASHG) 2017 Annual Meeting.

Advances in computer processing and genetic-sequencing technology over the past 2 decades have meant that genomics, genetic testing, and gene-based therapies have become increasingly essential components of clinical care in many disciplines, ranging from oncology to infectious diseases and psychiatry, said Peter Scacheri, PhD, from Case Western Reserve University in Cleveland, who is program chair of the meeting.

"There is going to be an outstanding joint session with the World Congress of Psychiatric Genetics, discussing what we've learned about the genetics of psychiatric diseases with world-class speakers," Dr Scacheri told Medscape Medical News.

The joint symposium will feature talks on the genetic architecture of psychiatric disease, use of whole-genome sequencing to elucidate the genetic underpinnings of autism, and the implications of genetic testing and counseling for psychiatric patients.

Genetics of Autism

The practical applications of our understanding of the genetic underpinnings of mental and developmental disorders will be addressed during a session on autism by Pamela Feliciano, PhD, scientific director of the Simons Foundation Powering Autism Research for Knowledge, also known as SPARK.

The genomic architecture of autism spectrum disorder is being investigated by SPARK researchers, who are in the process of developing a longitudinal research cohort of 50,000 people with autism spectrum disorder and their family members to look for individual genetic causes of the disorder.

"In the first year of recruitment, we have enrolled over 20,000 individuals with ASD through a national network of 25 clinical sites and social and digital media campaigns," Dr Feliciano and her colleagues write in their abstract.

An ambitious project on the whole-genome sequencing of families with autism spectrum disorder will be described during the same session by Susan Walker, PhD, from the Center for Applied Genomics at the Hospital for Sick Children in Toronto. She and her colleagues are building a cloud-based database, called MSSNG, to explore phenotypes and the underlying genetic factors involved in the disorder.

From the current collection of 5205 whole-genome samples, the team has identified 18 new risk variants for autism spectrum disorder.

Star Power

A special presidential symposium on global health and genomics will feature Bill Gates, cofounder of Microsoft and cochair and trustee of the Bill & Melinda Gates Foundation, and Francis Collins, MD, PhD, director of the National Institutes of Health.

"We look forward to welcoming these modern-day legends of health and science to the genetics community at ASHG, and sharing their perspectives with our members and attendees," said ASHG President Nancy Cox, PhD.

Also on tap will be presentations on the functional characterization of genetic variants of unclear significance in very-early-onset psychosis, gene discovery and functional models of intellectual disability, risk alleles for migraines, and genetic associations in cerebral palsy and epilepsy.

The use of DNA to uncover rare genetic variants that confer risk for psychiatric disorders will be described by Kyle Satterstrom, PhD, from the analytic and translational genetics unit at Massachusetts General Hospital in Boston and the Broad Institute in Cambridge, during the same session.

Dried blood samples stored at the Danish Neonatal Screening Biobank are being sequenced by members of iPSYCH-Broad Consortium and matched to phenotypes from the Danish Psychiatric Central Registry.

To date, data from more than 16,000 exomes — including 4084 from people with autism, 3536 from people with attention deficit hyperactivity disorder, 727 people with both diagnoses, and 5214 control subjects — have been processed.

The impact of next-generation genetic sequencing on our understanding of the evolution of the human brain will be discussed by Evan Eichler, PhD, professor of genomic sciences at the University of Washington in Seattle. He will describe how sequencing revealed that the evolutionary process of segmental duplication, which led to the ultimate dominance of Homo sapiens, also increased the risk for neurodevelopmental disorders, such as epilepsy, autism, and intellectual disabilities.

Ethical and Legal Issues

A session on genetic testing for cancer looks at the decision to recommend BRCA genetic testing. A study that demonstrated that five simple criteria are a more effective indicator of the need for BRCA testing than family history will be presented by Nazneen Rahman, PhD, from Institute of Cancer Research in London.

A number of presentations will examine use of the highly controversial CRISPR–Cas9 gene-editing technology as both a research tool and a means of correcting severe inborn genetic errors.

In August, the ASHG and 10 other organizations issued a joint statement urging a "cautious but proactive approach" to human germline genome editing (Am J Hum Genet. 2017;101:167-176).

The question of what to do about secondary and incidental findings from whole-exome sequencing and genome-wide scans will be explored, as will consumer and healthcare provider perspectives on genetic technologies, and the challenges of communicating genetic information to patients in the age of next-generation sequencing.

Follow Medscape on Twitter @Medscape and Neil Osterweil @NeilOsterweil

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