Ethical and Psychosocial Implications of Genomic Newborn Screening.

Harvey L Levy

doi:10.3390/ijns7010002

Abstract

The potential for genomic screening of the newborn, specifically adding genomic screening to current newborn screening (NBS), raises very significant ethical issues. Regardless of whether NBS of this type would include entire genomes or only the coding region of the genome (exome screening) or even sequencing specific genes, the ethical issues raised would be enormous. These issues include the limitations of bioinformatic interpretation of identified variants in terms of pathogenicity and accurate prognosis, the potential for substantial uncertainty about appropriate diagnosis, therapy, and follow-up, the possibility of much anxiety among providers and parents, the potential for unnecessary treatment and “medicalizing” normal children, the possibility of adding large medical costs for otherwise unnecessary follow-up and testing, the potential for negatively impacting medical and life insurance, and the almost impossible task of obtaining truly-informed consent. Moreover, the potentially-negative consequences of adding genomic sequencing to NBS might jeopardize all of NBS which has been and continues to be so beneficial for thousands of children and their families throughout the world.

Highlights

Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA
Dr Robert Guthrie, the founder of newborn screening (NBS), and I were sharing a taxi in New York in the late 1980’s or early 1990’s heading for the airport when again he brought up the subject of NBS for histidinemia
He had modified his famous bacterial inhibition assay, the one he had developed for phenylalanine to identify phenylketonuria (PKU), so that maple syrup urine disease (MSUD) and homocystinuria (HCU) could be added to NBS

Summary

Evolution of Newborn Screening

Dr Robert Guthrie, the founder of newborn screening (NBS), and I were sharing a taxi in New York in the late 1980’s or early 1990’s heading for the airport when again he brought up the subject of NBS for histidinemia He had modified his famous bacterial inhibition assay, the one he had developed for phenylalanine to identify phenylketonuria (PKU), so that maple syrup urine disease (MSUD) and homocystinuria (HCU) could be added to NBS. Like so many geniuses he came to an idea and devoted his life to making this idea a reality that changed the world His development of newborn screening required two components—a test which was the bacterial inhibition assay that semi-quantitatively measured phenylalanine and a blood specimen that could and safely be obtained from the newborn infant and readily transported to a central laboratory [9]. Dried blood in filter paper became used for molecular diagnosis in patients with clinical symptoms [12] and, most recently, a number of studies have examined next-generation sequencing in the dried blood specimens for the possibility that it could be used in NBS [13,14,15,16]

Targeted Genotyping

Genome-Wide Sequencing

Ethical and Psychosocial Implications

Methods