Stories about: BabySeq

Genomic sequencing for newborns: Are parents receptive?

BabySeqCasie Genetti, MS, CGC is a licensed genetic counselor with the Manton Center for Orphan Disease Research at Boston Children’s Hospital. She is first author of a recently published paper on the BabySeq Project.

The idea of genomic sequencing for every newborn has many in the scientific community buzzing with excitement, while leaving others wary of the ethical and social implications. But what do the parents think? The BabySeq Project has been exploring parental motivations and concerns while assessing their willingness to participate in a pilot newborn sequencing study.

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If I have the mutation, will I get the disease? New research looks at genetic ‘penetrance’

genetic penetranceRecently announced preliminary results of the BabySeq study included pathogenic or “likely pathogenic” variants linked to heart conditions in three apparently healthy babies. Two are being followed at Boston Children’s Hospital and have had cardiac testing. But is this testing necessary, and are these infants truly at risk? It’s too soon to tell.

Then, last week, a report from the Mayo Clinic raised an alarm about overzealous use of genetic testing in healthy individuals. After a 13-year-old boy died from a heart syndrome, about two dozen family members had genetic testing. All tested positive for variants in a gene linked to long-QT syndrome and were diagnosed with the disease. Yet none had cardiac symptoms, and only one had a positive EKG at any point — the boy’s brother, who had a defibrillator implanted. When the Mayo team reanalyzed the test results using a more up-to-date genetic database, they concluded the variant is harmless.

And this week, in Science Translational Medicine, researchers at Brigham and Women’s Hospital, Boston Children’s and Massachusetts General Hospital address the question: If people carry a genetic mutation linked to a condition, what are the chances they will develop that condition over time? As part of the genomes2people project, the researchers tested participants in two long-term population studies — the Framingham Heart Study and the Jackson Heart Study — for 56 genes representing 24 hereditary cancer and cardiac syndromes. They did not know the participants’ actual health status. As it turned out, carrying a mutation increased risk for the related disease 4.7-fold in African Americans and 6.4-fold in European Americans, who had longer follow-up. This was true regardless of family history.

Vector sat down with Nina Gold, MD, a senior resident in Pediatrics and Medical Genetics at Boston Children’s, for her perspective. Gold is a first author on this week’s report.

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BabySeq: Early results of newborn genomic sequencing are mixed

BabySeq
While a previous study indicated parents were very interested in newborn sequencing, just 7 percent of those approached have enrolled in BabySeq so far.

It seems like a great idea. We all have our genomes sequenced at birth, and any findings that suggest a future medical problem are addressed with early interventions, optimizing our health and extending our lives. But are parents of newborns ready to embrace the vision? Yes and no, according to interim results of a first-of-its-kind randomized trial of newborn sequencing. Findings from what’s known as the BabySeq Project were presented last week at the American Society of Human Genetics (ASHG) 2016 Annual Meeting.

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DNA sequencing in newborns: Where do we go from here?

sequencing in newborns - BabySeqCan sequencing of newborns’ genomes provide useful medical information beyond what current newborn screening already provides? What results are appropriate to report back to parents? What are the potential risks and harms? How should DNA sequencing information be integrated into patient care?

Four teams from across the country will converge this week (April 8–10) in Kansas City, Mo., to address these questions and share learnings from NIH-funded pilot projects. The four teams, comprising the NIH’s Newborn Sequencing In Genomic medicine and public HealTh (NSIGHT) project, will give updates on their work at the 6th Annual Pediatric Genomics Conference, hosted by Children’s Mercy Kansas City.

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