Table 1.

Genomics and the healthcare continuum⁴

Healthcare continuum	Genomic application example	Clinical application example
Preconception/prenatal	Germline genetic testing for recessive conditions	Preconception testing for carrier status in prospective parents for genetic variants associated with recessive conditions, such as sickle cell disease, cystic fibrosis, and Tay Sachs disease18
	Cell-free fetal DNA from maternal plasma	Less invasive strategy compared with amniocentesis for assessing fetal genomic variations that have health implications such as fetal aneuploidy19
Newborn screening	State-mandated newborn screening; not all recommended screening tests are genetic tests, but they screen for indications of the need for further genetic evaluation	Approximately 4 million newborns screened annually using dried blood spot cards for conditions such as immunodeficiency disorder and congenital heart disease20
Disease susceptibility	Germline genetic testing	Inherited cancer syndromes, such as hereditary breast ovarian syndrome, associated with mutations in BRCA1 and BRCA221
		Familial hypercholesterolemia associated with mutations in LDLR, APOB, and PCSK922
Screening and diagnosis	Stool DNA testing	FDA-approved test that can be used for screening purposes instead of colonoscopy23
Prognosis and therapeutic decisions	Targeted therapies	Therapy based on tumor genomic variation, such as epidermal growth factor receptor somatic mutation in non–small cell lung cancer and tyrosine kinase inhibitors24
	Tumor profiling	Basket trials, such as the Molecular Analysis for Therapy Choice, or NCI-MATCH, designed to identify somatic mutations/amplifications/translocations in patient tumor samples and assign patients to agents/regimens based on tumor genomics and not histology25
	Pharmacogenomics	Individuals who carry HLA-B*57:01 have an increased risk of hypersensitivity to the antiretroviral drug abacavir26
Monitoring disease burden and recurrence	Pharmacogenomics	Symptom management such as pain control; CYP2D6 to determine whether an individual can convert codeine into the active metabolite morphine26