Genetics in Medicine

Journal Information
ISSN / EISSN : 10983600 / 15300366
Current Publisher: Springer Science and Business Media LLC (10.1038)
Former Publisher: Ovid Technologies (Wolters Kluwer Health) (10.1097)
Total articles ≅ 3,842
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Latest articles in this journal

Didu S. T. Kariyawasam, Jacqueline S. Russell, Veronica Wiley, Ian E. Alexander, Michelle A. Farrar
Genetics in Medicine pp 1-9; doi:10.1038/s41436-019-0673-0

The publisher has not yet granted permission to display this abstract.
Scott D. Grosse, Sonja A. Rasmussen
Genetics in Medicine pp 1-3; doi:10.1038/s41436-019-0674-z

Paul J. Azzopardi, Ross E. G. Upshur, Stephanie Luca, Viji Venkataramanan, Beth K. Potter, Pranesh K. Chakraborty, Robin Z. Hayeems
Genetics in Medicine pp 1-8; doi:10.1038/s41436-019-0670-3

Abstract:PurposeDespite the public health successes of newborn bloodspot screening, uncertainty associated with variant forms of primary screening targets has led to discrepancies in medical management. This study explored health-care providers’ approaches to managing atypical forms of inherited metabolic diseases (IMDs) in the absence of evidence-based guidelines.MethodsSemistructured telephone interviews were conducted with metabolic specialists. 3-Methylcrotonyl CoA deficiency and variant forms of phenylketonuria, biotinidase deficiency, and fatty acid oxidation disorders were considered. Data were analyzed inductively and deductively using a novel taxonomy of uncertainty.ResultsHealth-care providers (n = 12) navigate diagnostic, prognostic, and therapeutic challenges of uncertainty while interpreting patient and family attitudes, preferences, and ideas in the care of children with these result types. Participants explained the limits of classifying mild and atypical metabolic phenotypes. Participants also described the challenge of finding balance between cautious care and overmedicalization. Developing consistent care plans and honest communication with families were perceived as effective strategies when navigating uncertainty.ConclusionProviders’ experiences suggest a need for transparent and accessible guidelines that account for challenges associated with uncertainty generated by screening. Timely consideration of this challenge is warranted with increasing emergence of genotype-first approaches to screening.
Ye Zhu, Kristi M. Swanson, Ricardo L. Rojas, Zhen Wang, Jennifer L. St. Sauver, Sue L. Visscher, Larry J. Prokop, Suzette J. Bielinski, Liewei Wang, Richard Weinshilboum, et al.
Genetics in Medicine pp 1-12; doi:10.1038/s41436-019-0667-y

Abstract:PurposeTo examine the evidence on the cost-effectiveness of implementing pharmacogenomics (PGx) in cardiovascular disease (CVD) care.MethodsWe conducted a systematic review using multiple databases from inception to 2018. The titles and abstracts of cost-effectiveness studies on PGx-guided treatment in CVD care were screened, and full texts were extracted.ResultsWe screened 909 studies and included 46 to synthesize. Acute coronary syndrome and atrial fibrillation were the predominantly studied conditions (59%). Most studies (78%) examined warfarin–CYP2C9/VKORC1 or clopidogrel–CYP2C19. A payer’s perspective was commonly used (39%) for cost calculations, and most studies (46%) were US-based. The majority (67%) of the studies found PGx testing to be cost-effective in CVD care, but cost-effectiveness varied across drugs and conditions. Two studies examined PGx panel testing, of which one examined pre-emptive testing strategies.ConclusionWe found mixed evidence on the cost-effectiveness of PGx in CVD care. Supportive evidence exists for clopidogrel–CYP2C19 and warfarin–CYP2C9/VKORC1, but evidence is limited in other drug–gene combinations. Gaps persist, including unclear explanation of perspective and cost inputs, underreporting of study design elements critical to economic evaluations, and limited examination of PGx panel and pre-emptive testing for their cost-effectiveness. This review identifies the need for further research on economic evaluations of PGx implementation.
D. Gareth R. Evans, Roope A. Kallionpää, Maurizio Clementi, Eva Trevisson, Victor-Felix Mautner, Sacha J. Howell, Lauren Lewis, Ouidad Zehou, Sirkku Peltonen, Antonella Brunello, et al.
Genetics in Medicine pp 1-1; doi:10.1038/s41436-019-0671-2

Roni Dengler
Genetics in Medicine pp 1-1; doi:10.1038/s41436-019-0668-x

American College of Medical Genetics and Genomics’ Board of Directors
Genetics in Medicine pp 1-1; doi:10.1038/s41436-019-0661-4

Israel Gomy, Judy E. Garber
Genetics in Medicine pp 1-2; doi:10.1038/s41436-019-0660-5

Ash Zawerton, Deciphering Developmental Disorder Study, Cyril Mignot, Ashley Sigafoos, Patrick R. Blackburn, Abdul Haseeb, Kirsty McWalter, Shoji Ichikawa, Caroline Nava, Boris Keren, et al.
Genetics in Medicine pp 1-14; doi:10.1038/s41436-019-0657-0

The publisher has not yet granted permission to display this abstract.