Genomic Newborn Screening: Are We Ready?

Elizabeth H. Dorfman; Robert C. Green, MD, MPH

Disclosures

December 18, 2012

In This Article

The Road Ahead for Genomic Newborn Screening

Ms. Dorfman: It is generally accepted that, at present, many parents are not aware of newborn screening and even fewer understand the reason for testing. As you have mentioned, parental permission and tiered consent have been discussed as ways to educate parents and provide them with more options for testing, but they have also raised concerns about imposing burdens, introducing confusion, and reducing participation in newborn screening. Do you think that the introduction of whole genome sequencing as part of newborn screening would change this debate?

Dr. Green: I do. I think it is going to force this debate out into the public arena. The debate has been shielded or repressed, if you will, out of well-intentioned concerns that shining a light on the controversy that we have been talking about will encourage both refusal and heighten privacy concerns that could lead to the destruction of critical blood samples. This is just one of the many disruptive effects that genomic technologies will have on medicine and society.

Ms. Dorfman: There are many unanswered questions about how individuals understand and respond to genetic information. Are there key questions that you think are particularly important to address before widespread adoption of whole genome sequencing in newborn screening?

Dr. Green: There are huge issues around collating and curating variant databases so that there can be a reliable resource for the interpretation of novel variants. There are huge issues around what it means to discover both known pathogenic and novel variants in the absence of family history and whether the penetrance in those situations is similar or dissimilar to situations with a robust family history. There is a huge education gap and the potential for great misunderstanding in both the lay public and the medical profession about what genomic information might mean and how it can be used. There is also a certain amount of residual paternalism that may or may not be justified about what families and patients have the right to know and when they have the right to know it. All these issues need a tremendous amount of clarification before you could imagine widespread use of sequencing in the newborn timeframe.

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