Chapters: 0:00 David on the state of the field today7:25 Robin: Does the screened baby do better than the non-screened baby?12:25 Paul:  We have to do the studies.  The time is now.19:22 David on the current plans at Genomics England25:00 What does Robin think of the GUARDIAN study?29:00 Paul on incomplete penetrance31:22 We’re not looking for treatable conditions.  We’re looking for children who need to be treated.41:10 Ethical concernsToday’s show is a co-production with GenomeWeb.As genomic medicine takes hold in the clinic, there are ever more reasons to do whole genome sequencing at birth as a screen for all babies.  Newborn screening tests have been common clinical practice since the 1960s and the development of the single phenylketonuria (PKU) test.   The screen has grown to include other conditions, with a bump from mass spec technology in the 80s.  In fact, it has been new technology that has enabled and enhanced screening all along.  Today we stand on a precipice in the field.  Should whole genome sequencing at birth become the new standard of care screen?  As our first panelist asks, should we continue the slow process of adding one condition at a time, or take a larger leap forward?  With help from our partners at GenomeWeb, we have assembled a terrific panel of guests to take on these questions.David Bick is the Principal Clinician for the Newborn Genomes Programme and the former Faculty Investigator and Chief Medical Officer at HudsonAlpha.Robin Lachmann is a consultant in adult inherited metabolic disease at the University College London Hospitals.   He also serves as the national specialty advisor for metabolic disorders for England’s National Health Service.Paul Kruszka is the Chief Medical Officer at GeneDx, a diagnostics lab that has partnered with the biggest study for newborn sequencing in the U.S. called the GUARDIAN study.

David was recruited to the U.K. to create their newborn sequencing program.   He says we have now identified over 700 conditions and advocates for whole genome screening.  Robin, as David tells us in the show, serves as one of the NHS’s sentinels for the introduction of new technologies into the clinic.   He brings up the thorny questions.  Does the whole genome screened child do better than one not screened?  Paul says we have to do the studies, and the time is now. What are your thoughts?  We welcome your comments.

Please note: You can join all three of today’s guests at the International Conference on Newborn Sequencing this October 5th-6th at the Royal Institute in London.

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