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BACKGROUND Although single nucleotide polymorphism chromosomal microarrays identify areas of small genetic deletions or duplications, they can also reveal regions of homozygosity indicative of consanguinity. As more nongeneticists order single nucleotide polymorphism microarrays, they must prepare for the potential ethical, legal, and social issues that(More)
BACKGROUND State newborn screening (NBS) programs are considering the storage and use of NBS blood samples for research. However, no systematic assessment of parents' attitudes exists. METHODS We conducted an Internet-based survey of a nationally representative parent sample. We examined parents' willingness (1) to permit use of their children's NBS(More)
Genetic testing offered by direct-to-consumer companies-herein referred to as "predictive genomic testing"--has come under federal scrutiny. Critics claim testing yields uninterpretable and potentially harmful information. Supporters assert individuals have a right to this information, which could catalyze preventive health actions. Despite contentions that(More)
Family health history collection and genetic testing are core elements for the successful translation of genomics into primary care practice. Yet, little is known about how pediatric providers implement these elements in practice. We surveyed the membership of the American Academy of Pediatrics regarding family health history (FHH) collection and genetic(More)
We aimed to better understand biobank participant opinions of the benefits of newborn screening (NBS) for certain disorder types and how terminology used in NBS discourse might impact stakeholder opinion. We conducted a between-subjects randomized survey of 5840 members of the Northwestern University Biobank. The survey contained 12 scenarios, each(More)
BACKGROUND Parents are increasingly faced with decisions about optional newborn bloodspot screening (NBS) despite no consistent policy for communicating information about such testing. We examined whether framing optional NBS alongside mandatory NBS influenced intention to participate in optional NBS. METHODS For this Internet-administered study, 2,991(More)
Primary prevention is a pillar of primary care medicine. Furthermore, the identification of commonly occurring genetic mutations that confer only modest increases in disease risk (i.e., low-penetrance mutations or LPMs) is expanding our conception of how genetic testing supports prevention goals. To date, most predictive genetic testing has focused on(More)
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