PRACTICE POINTER Direct-to-consumer genetic testing

被引：76

作者：

Horton, Rachel ^{[1
,2
]}

Crawford, Gillian ^{[1
,2
]}

Freeman, Lindsey ^{[3
]}

Fenwick, Angela ^{[1
]}

Wright, Caroline F. ^{[4
]}

Lucassen, Anneke ^{[1
]}

机构：

[1] Univ Southampton, Fac Med, CELS, Southampton, Hants, England

[2] Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England

[3] Wessex Reg Genet Lab, Salisbury, Wilts, England

[4] Univ Exeter, Coll Med & Hlth, Exeter, Devon, England

来源：

BMJ-BRITISH MEDICAL JOURNAL | 2019年 / 367卷

基金：

英国惠康基金;

关键词：

D O I：

10.1136/bmj.l5688

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页数：6

共 18 条

[1]

[Anonymous], 2019, BBC

[2] Psychiatric genetic counselling for parents of individuals affected with psychotic disorders: a pilot study [J].

Austin, Jehannine C. ;

Honer, William G. .

EARLY INTERVENTION IN PSYCHIATRY, 2008, 2 (02) :80-89

[3] Third party interpretation of raw genetic data: an ethical exploration [J].

Badalato, Lauren ;

Kalokairinou, Louiza ;

Borry, Pascal .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2017, 25 (11) :1189-1194

[4] Genome sequencing in healthcare: understanding the UK general public's views and implications for clinical practice [J].

Ballard, Lisa M. ;

Horton, Rachel H. ;

Fenwick, Angela ;

Lucassen, Anneke M. .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (02) :155-164

[5] Great expectations: patient perspectives and anticipated utility of non-diagnostic genomic-sequencing results [J].

Hylind R. ;

Smith M. ;

Rasmussen-Torvik L. ;

Aufox S. .

Journal of Community Genetics, 2018, 9 (1) :19-26

[6]

Kellogg G, ACMG ANN CLIN GEN M

[7] The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes [J].

Laver, Thomas W. ;

Colclough, Kevin ;

Shepherd, Maggie ;

Patel, Kashyap ;

Houghton, Jayne A. L. ;

Dusatkova, Petra ;

Pruhova, Stepanka ;

Morris, Andrew D. ;

Palmer, Colin N. ;

McCarthy, Mark I. ;

Ellard, Sian ;

Hattersley, Andrew T. ;

Weedon, Michael N. .

DIABETES, 2016, 65 (10) :3212-3217

[8] Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants [J].

Manickam, Kandamurugu ;

Buchanan, Adam H. ;

Schwartz, Marci L. B. ;

Hallquist, Miranda L. G. ;

Williams, Janet L. ;

Rahm, Alanna Kulchak ;

Rocha, Heather ;

Savatt, Juliann M. ;

Evans, Alyson E. ;

Butry, Loren M. ;

Lazzeri, Amanda L. ;

Lindbuchler, D'Andra M. ;

Flansburg, Carroll N. ;

Leeming, Rosemary ;

Vogel, Vitor G. ;

Lebo, Matthew S. ;

Mason-Suares, Heather M. ;

Hoskinson, Derick C. ;

Abul-Husn, Noura S. ;

Dewey, Frederick E. ;

Overton, John D. ;

Reid, Jeffrey G. ;

Baras, Aris ;

Willard, Huntington F. ;

McCormick, Cara Z. ;

Krishnamurthy, Sarath B. ;

Hartzel, Dustin N. ;

Kost, Korey A. ;

Lavage, Daniel R. ;

Sturm, Amy C. ;

Frisbie, Lauren R. ;

Person, T. Nate ;

Metpally, Raghu P. ;

Giovanni, Monia A. ;

Lowry, Lacy E. ;

Leader, Joseph B. ;

Ritchie, Marylyn D. ;

Carey, David J. ;

Justice, Anne E. ;

Kirchner, H. Lester ;

Faucett, W. Andrew ;

Williams, Marc S. ;

Ledbetter, David H. ;

Murray, Michael F. .

JAMA NETWORK OPEN, 2018, 1 (05) :e182140

[9] Representing a "revolution": how the popular press has portrayed personalized medicine [J].

Marcon, Alessandro R. ;

Bieber, Mark ;

Caulfield, Timothy .

GENETICS IN MEDICINE, 2018, 20 (09) :950-956

[10] Direct-to-consumer raw genetic data and third-party interpretation services: more burden than bargain? [J].

Moscarello, Tia ;

Murray, Brittney ;

Reuter, Chloe M. ;

Demo, Erin .

GENETICS IN MEDICINE, 2019, 21 (03) :539-541

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