Newborn screening using whole genome sequencing: the generation study

Talk description:

The Generation Study will approach women from 20 weeks of pregnancy. Consent will be obtained by 36 weeks of pregnancy.

Assessment of 922 genes-conditions pairs against four principles (genomicsengland.co.uk/initiatives/newborns) followed by pediatric specialist review identified 479 unique genes representing 216 conditions for inclusion in the program. The gene list for consideration came from rx-genes.com and NHS specialists. To maximize positive predictive value, only pathogenic and likely pathogenic variants will be reported. Screen positive cases will be confirmed with non-molecular confirmatory tests, which exist for nearly all selected conditions.

Cord blood will be the source of DNA. Where cord blood is unavailable, a heel stick or indwelling line will be the source. Central DNA extraction and short read sequencing cores will perform the laboratory work. All ‘condition suspected’ results will be reviewed by a laboratory clinical scientist. Initially, turnaround time is expected to be two months with a goal of reducing this to two weeks.

Screening results will be passed to pediatric specialists with experience treating the different conditions. They will call the family to engage in treatment and follow up. Only conditions where NHSE has confirmed that the treatment is available throughout England are included.

Evaluation of the program will include feedback from participants and health-care providers concerning process and acceptability. Evidence of clinical utility will be sought from pediatric specialists caring for screen positive babies. Assessment of the costs and saving will be undertaken.

Study participant recruitment is underway. Early experience with newborns screened will be presented.

Biography:

David Bick, MD is the Principal Clinician for the Newborn Genomes Programme at Genomics England. Prior to his work in England, he was the Chief Medical Officer and a faculty investigator at the HudsonAlpha Institute for Biotechnology. Dr. Bick also served as the Medical Director of the Smith Family Clinic for Genomic Medicine located on the campus of HudsonAlpha Institute for Biotechnology and the Laboratory Director of the HudsonAlpha Clinical Services Laboratory.

He is a leader in the field of genomic medicine and has published numerous peer-reviewed articles, chapters, and reviews. Dr. Bick’s laboratories at the Medical College of Wisconsin and Children’s Hospital of Wisconsin were the first in the world to offer whole genome sequencing as a clinical test. He also developed the first Genomic Medicine Clinic in the United States.