Recognizing these changes, in 2013 the National Institutes of Health
(NIH) granted $5 million each to four recipients to research genomic sequencing and newborn screening disorders.”
68 As of September 2013, the
four grant recipients were researching methods for making newborn information available as a resource for parents and medical providers,
69 the benefits of using larger and faster sequencing in Neonatal Instensive Care
70 the value of additional information gained by exome sequencing of
currently screened disorders,
71 and the ethical, legal, and social implications
for informed consent and the return of results to parents.
72 The NIH’s large
investment in these grants demonstrates that an expansion of newborn
screening is an influential current consideration, but that issues with such a
proposal have been anticipated and warrant careful research and consideration. Certain organizations, such as the American Academy of Pediatrics
(AAP), have voiced support in favor of mandatory genetic screening of all
V. HEALTH APPLICATIONS OF WHOLE GENOME SEQUENCING FOR
A. Benefits for Individual Health
The WGS of newborns has the potential to revolutionize disease detec-
tion, prevention, and treatment, resulting in radical changes to public health
practice and research. With the use of WGS on newborns, “[p]ersonalized
genomic medicine will then start from the moment of birth, as the [child’s
health care provider] will be in possession of a complete map of each young
patient’s known genetic defects, vulnerabilities, and susceptibilities.”
68. Nat’l Insts. of Health, News & Events: NIH program explores the use of genomic
sequencing in newborn healthcare (Sept. 4, 2013), http://www.nih.gov/news/health
69. Id. (discussing Brigham and Women’s Hospital in Boston, Massachusetts).
70. Id. (discussing Children’s Mercy Hospital in Kansas City, Missouri).
71. Id. (discussing University of California, San Francisco). Exome sequencing selectively examines only the functionally important sequences of DNA that are translated into
proteins (as opposed to the entire sequence of DNA, of which only 1.5% is actually expressed). See Leah Eisenstadt, What is Exome Sequencing? (Oct. 15, 2010),
72. News & Events: NIH program explores the use of genomic sequencing in newborn
healthcare, supra note 68 (discussing University of North Carolina at Chapel Hill).
73. See, e.g., AM. ACAD. OF PEDIATRICS, AAP Issues New Guidance on Genetic Testing
of Children (Feb. 21, 2013), http://www.aap.org/en-us/about-the-aap/aap-press-room/pages/ AAP-Issues-New-Guidance-on-Genetic-Testing-of-Children.aspx.
74. PRESIDENT’S COUNCIL ON BIOETHICS, supra note 1, at
55. Personalized medicine is
an emerging field engendering the concept that medical care can and should be tailored to
the genetic and molecular profile of the individual, and it aims to shift medical practices to
proactive health management and customized care. See generally Edward Abrahams, Geoffrey S. Ginsburg & Mike Silver, The Personalized Medicine Coalition, 5 AM. J.