ease prediction and identification of therapeutic targets.
87 Identification of
certain genetic markers has already been associated with cardiovascular
disease, and whole genomic sequencing could identify genes with previously unknown roles in the development of cardiovascular disease.
88 Additionally, genetic variant identification indicating an increased risk of cancer is
now being utilized to influence disease screening, disease risk counseling,
and preventive treatments.
89 In addition to disease prevention, WGS can be
used to predict prognosis and treatment response in certain cancers.
A reduction of risk from a common disease, such as cardiovascular disease, could affect many millions of individuals throughout the population.
In addition to the traditional focus on the risk of developing common diseases, the field of public health genomics could find dramatic success by
expanding the focus to rare diseases.
92 This expansion could potentially
identify millions of individuals who unknowingly carry mutations that predispose them to preventable disease.
93 One such example is Lynch syndrome.
94 Approximately 0.2% of individuals in the U.S. carry deleterious
genetic mutations in any one of the four genes associated with Lynch syndrome.
95 These individuals are at a greater than 80% risk for colon cancer.
Knowing such cumulative information at a child’s birth could lead to dramatic increases in disease prevention.
B. Benefits to Population Health
Besides benefits to the individual child or his parents, WGS of newborns
could lead to advances in population health. The population’s health as a
tive results, some evidence has shown that current genomic profiling for disease risk may not
be as effective as previously anticipated. See Glenn E. Palomaki et al., Use of Genomic Pan-
els to Determine Risk of Developing Type 2 Diabetes in the General Population: a Targeted
Evidence-Based Review, 15 GENETICS MED. 600, 609 (2013). This may improve, however, as
research continues to evaluate combinations of genomic markers. See, e.g., Glenn E. Palo-
maki et al., Use of genomic profiling to assess risk for cardiovascular disease and identify
individualized prevention strategies— A targeted evidence-based review, 12 GENETICS MED.
772, 782 (2010).
87. Santhi K. Ganesh et al., Genetics and Genomics for the Prevention and Treatment
of Cardiovascular Disease: Update: A Scientific Statement from the American Heart Association, 128 CIRCULATION 2813, 2813 (2013).
89. Cinnamon S. Bloss et al., Genomics for Disease Treatment and Prevention, 34
PSYCHIATRIC CLINICS N. AM. 147, 154-55 (2011).
90. Id. at 157.
91. James Evans et al., We screen newborns, don’t we?: realizing the promise of public
health genomics, 15 GENETICS MED. 332, 332 (2013); see Ganesh, supra note 87, at 2814-17.
92. Evans, supra note 91, at 332.