Lessons from the legal challenges and constraints from current newborn
screening programs can guide policymakers in the development of necessary statutory changes in order to implement a WGS approach to newborn
screening. Some of the issues that will need to be studied and considered
include informed consent, the reporting of results, the storage, ownership,
and use of genetic samples and data, privacy, and the constitutionality of a
WGS mandate.
A. Informed Consent
While all states mandate newborn screening, a majority of states allow
parents to opt-out of screenings if they object on religious or philosophical
grounds.
103 Although the AAP supports mandatory genetic screening for all
newborns, the AAP recommends parents be given the right to refuse new-
born screening following information on benefits and risk of genetic testing
and screening.
104 Most states do not currently require informed consent pri-
or to the screening, and only approximately half of states require parents be
given educational materials pertaining to the screening.
105 With the shift to
WGS, more states may need to structure mandatory newborn screening
programs to include an informed consent requirement and education regard-
ing the results.
106 Information may include the risks to the actual testing, the
WGS process, and the potential results in terms of genomic disorders and
determination of disease risk.
B. Reporting of Results
One overarching legal and ethical issue when dealing with newborn
health information includes deciding what information to provide to the
newborn’s parents and how specifically to deliver the information to the
parents, especially if such information provides negative health conse-
quences. Policymakers would need to consider whether results would in-
clude late or adult onset disorders, or only disorders for which a childhood
onset manifests. The AAP currently discourages the practice of reporting
late-onset disorders discovered through whole genome newborn screen-
ing.
107 In the ACMG’s recommendations for reporting of incidental find-
ings, however, the ACMG felt that the ethical concerns about providing the
clinicians of children with genetic risk information about adult-onset dis-
traditional process used for screening).
103. Botkin, Whole Genome Sequencing in Newborn Screening, supra note 40.
104. AM. ACAD. OF PEDIATRICS, supra note 73.
105. PRESIDENT’S COUNCIL ON BIOETHICS, supra note 1, at 89; Tarini & Goldenberg,
supra note 100, at 385.
106. See O. M. Vanakker & A. De Paepe, supra note 84, at 6.
107. AM. ACAD. OF PEDIATRICS, supra note 73.
