Khoury, What’s the Medical Utility away from Hereditary Research?
Given that exposure out of sex chromosomes analysis might seem in order to contradict you to idea, the selection is founded on the new systematic power off ruling out sex-linked conditions, instead of an idea of scientific electricity one takes into account fulfilling adult curiosity
111 Wylie Burke, Genetic Attempt: Scientific Authenticity and Clinical Utility, 81 Curr. Protoc. Hum. Genet. step 1, 6 (2009). Health-related validity, i.age., ‘the precision in which a great . . . sample describes a particular health-related condition’, id. at the six, is additionally called for.
112 To date, founded largely with the ACOG’s suggestions, insurance coverage just talks about NIPT evaluation to have chromosomal issues, plus Down Disorder (trisomy 21), trisomy 13, trisomy 18, and you can X chromosome defects. ACOG Panel Advice Zero. 640, Cell-100 % free DNA Evaluating to own Fetal Aneuploidy, 126 Obstet. & Gynecol. e31, e31 (2015) (suggesting one to NIPT testing end up being simply for prominent trisomies and you can, ‘if questioned, sex chromosomes’, however, suggesting against their addition regarding microdeletion syndromes). Personal correspondence with Whitney Williams, come across supra mention 84.
115 Select Linda L. McCabe & Edward R.B. McCabe, Direct-to-Consumer Hereditary Review: Access and you may Revenue, six Genet. Med. 58, 58.
116 Peter Benn et al., Obstetricians and you can Gynecologists’ Practice and you will Views away from Offered Supplier Review and you will Noninvasive Prenatal Review, 34 Prenat. Khoury, What’s the Medical Utility away from Hereditary Research? weiterlesen →