Literature DB >> 24848746

Measuring informed choice in population-based reproductive genetic screening: a systematic review.

Alice Grace Ames1, Sylvia Ann Metcalfe1, Alison Dalton Archibald2, Rony Emily Duncan3, Jon Emery4.   

Abstract

Genetic screening and health-care guidelines recommend that programmes should facilitate informed choice. It is therefore important that accurate measures of informed choice are available to evaluate such programmes. This review synthesises and appraises measures used to evaluate informed choice in population-based genetic screening programmes for reproductive risk. Databases were searched for studies offering genetic screening for the purpose of establishing reproductive risk to an adult population sample, in which aspects of informed choice were measured. Studies were included if, at a minimum, measures of uptake of screening and knowledge were used. Searches identified 1462 citations and 76 studies were reviewed in full text; 34 studies met the inclusion criteria. Over 20 different measures of informed choice were used. Many measures lacked adequate validity and reliability data. This systematic review will inform future evaluation of informed choice in population genetic screening programmes.

Mesh：

Year:  2014        PMID： 24848746      PMCID： PMC4266751          DOI： 10.1038/ejhg.2014.89

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


  70 in total

Review 1.  Population screening in the age of genomic medicine.

Authors:  Muin J Khoury; Linda L McCabe; Edward R B McCabe
Journal:  N Engl J Med       Date:  2003-01-02       Impact factor: 91.245

2.  ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities.

Authors: 
Journal:  Obstet Gynecol       Date:  2007-01       Impact factor: 7.661

3.  Informed consent for antenatal serum screening for Down syndrome.

Authors:  Hsiao-Lin Hwa; Lian-Hua Huang; Fon-Jou Hsieh; Song-Nan Chow
Journal:  Taiwan J Obstet Gynecol       Date:  2010-03       Impact factor: 1.705

4.  Antenatal screening for haemoglobinopathies in primary care: a cohort study and cluster randomised trial to inform a simulation model. The Screening for Haemoglobinopathies in First Trimester (SHIFT) trial.

Authors:  E Dormandy; S Bryan; M C Gulliford; T E Roberts; A E Ades; M Calnan; K Atkin; J Karnon; P M Barton; J Logan; F Kavalier; H J Harris; T A Johnston; E N Anionwu; V Davis; K Brown; A Juarez-Garcia; V Tsianakas; T M Marteau
Journal:  Health Technol Assess       Date:  2010-04       Impact factor: 4.014

5.  Using pictographs to enhance recall of spoken medical instructions.

Authors:  P S Houts; R Bachrach; J T Witmer; C A Tringali; J A Bucher; R A Localio
Journal:  Patient Educ Couns       Date:  1998-10

6.  Mothers' knowledge of screening for trisomy 21 in 1999: a survey in Paris maternity units.

Authors:  C De Vigan; V Vodovar; J Goujard; M Garel; C Vayssière; F Goffinet
Journal:  Eur J Obstet Gynecol Reprod Biol       Date:  2002-08-05       Impact factor: 2.435

7.  "It's something I need to consider": decisions about carrier screening for fragile X syndrome in a population of non-pregnant women.

Authors:  Alison D Archibald; Alice M Jaques; Samantha Wake; Veronica R Collins; Jonathan Cohen; Sylvia A Metcalfe
Journal:  Am J Med Genet A       Date:  2009-12       Impact factor: 2.802

8.  What about informed consent in first-trimester ultrasound screening for Down syndrome?

Authors:  Romain Favre; Grégoire Moutel; Nathalie Duchange; Christophe Vayssière; Monique Kohler; Nicole Bouffet; Marie-Christine Hunsinger; Anne Kohler; Cécile Mager; Muriel Neumann; Christine Vayssière; Brigitte Viville; Christian Hervé; Israel Nisand
Journal:  Fetal Diagn Ther       Date:  2008-02-20       Impact factor: 2.587

9.  Understanding why decision aids work: linking process with outcome.

Authors:  Hilary L Bekker; Jenny Hewison; Jim G Thornton
Journal:  Patient Educ Couns       Date:  2003-07

10.  Impact on informed choice of offering antenatal sickle cell and thalassaemia screening in primary care: a randomized trial.

Authors:  Katrina Brown; Elizabeth Dormandy; Erin Reid; Martin Gulliford; Theresa Marteau
Journal:  J Med Screen       Date:  2011       Impact factor: 2.136
View more
  15 in total

1.  The effect of a decision aid on informed decision-making in the era of non-invasive prenatal testing: a randomised controlled trial.

Authors:  Lean Beulen; Michelle van den Berg; Brigitte Hw Faas; Ilse Feenstra; Michiel Hageman; John Mg van Vugt; Mireille N Bekker
Journal:  Eur J Hum Genet       Date:  2016-05-18       Impact factor: 4.246

Review 2.  Pre- and post-test genetic counseling for chromosomal and Mendelian disorders.

Authors:  Jill Fonda Allen; Katie Stoll; Barbara A Bernhardt
Journal:  Semin Perinatol       Date:  2015-12-21       Impact factor: 3.300

3.  Barriers and Facilitators for Population Genetic Screening in Healthy Populations: A Systematic Review.

Authors:  Emily C Shen; Swetha Srinivasan; Lauren E Passero; Caitlin G Allen; Madison Dixon; Kimberly Foss; Brianna Halliburton; Laura V Milko; Amelia K Smit; Rebecca Carlson; Megan C Roberts
Journal:  Front Genet       Date:  2022-07-04       Impact factor: 4.772

4.  NIPT and Informed Consent: an Assessment of Patient Understanding of a Negative NIPT Result.

Authors:  Julie L Piechan; Karrie A Hines; Daniel L Koller; Kristyne Stone; Kimberly Quaid; Wilfredo Torres-Martinez; Divya Wilson Mathews; Tatiana Foroud; Lola Cook
Journal:  J Genet Couns       Date:  2016-04-01       Impact factor: 2.537

5.  Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening.

Authors:  Sylvia A Metcalfe; Melissa Martyn; Alice Ames; Vicki Anderson; Alison D Archibald; Grad Dip Gen Couns; Rob Carter; Jonathan Cohen; Megan Cotter; M GenCouns; William Dang; Martin B Delatycki; Susan Donath; Samantha Edwards; PGrad Dip Educ; Grad Dip Gen Couns; Robin Forbes; Grad Dip Gen Couns; Mioara Gavrila; M MedSci; Jane Halliday; Chriselle Hickerton; Melissa Hill; Grad Dip Gen Couns; Lorilli Jacobs; PGrad Dip Ultrasound; Vicki Petrou; Grad Dip Gen Couns; Loren Plunkett; M GenCouns; Leslie Sheffield; F Racp; Alison Thornton; Grad Dip Gen Couns; Sandra Younie; PGrad Dip Hlth Econ; Jon D Emery
Journal:  Genet Med       Date:  2017-06-29       Impact factor: 8.822

6.  Current attitudes and preconceptions towards expanded carrier screening in the Eastern Chinese reproductive-aged population.

Authors:  Fang Zhang; Jianxin Tan; Binbin Shao; Tao Jiang; Ran Zhou; Yan Wang; Jingjing Zhang; Fengchang Qiao; Xiuqing Ji; Ya Wang; Ping Hu; Zhengfeng Xu
Journal:  J Assist Reprod Genet       Date:  2021-01-06       Impact factor: 3.412

7.  Responsible implementation of expanded carrier screening.

Authors:  Lidewij Henneman; Pascal Borry; Davit Chokoshvili; Martina C Cornel; Carla G van El; Francesca Forzano; Alison Hall; Heidi C Howard; Sandra Janssens; Hülya Kayserili; Phillis Lakeman; Anneke Lucassen; Sylvia A Metcalfe; Lovro Vidmar; Guido de Wert; Wybo J Dondorp; Borut Peterlin
Journal:  Eur J Hum Genet       Date:  2016-03-16       Impact factor: 4.246

8.  Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

Authors:  Wybo Dondorp; Guido de Wert; Yvonne Bombard; Diana W Bianchi; Carsten Bergmann; Pascal Borry; Lyn S Chitty; Florence Fellmann; Francesca Forzano; Alison Hall; Lidewij Henneman; Heidi C Howard; Anneke Lucassen; Kelly Ormond; Borut Peterlin; Dragica Radojkovic; Wolf Rogowski; Maria Soller; Aad Tibben; Lisbeth Tranebjærg; Carla G van El; Martina C Cornel
Journal:  Eur J Hum Genet       Date:  2015-03-18       Impact factor: 4.246

Review 9.  Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues.

Authors:  Jean Gekas; Sylvie Langlois; Vardit Ravitsky; François Audibert; David Gradus van den Berg; Hazar Haidar; François Rousseau
Journal:  Appl Clin Genet       Date:  2016-02-04

10.  Development and validation of a measure of informed choice for women undergoing non-invasive prenatal testing for aneuploidy.

Authors:  Celine Lewis; Melissa Hill; Heather Skirton; Lyn S Chitty
Journal:  Eur J Hum Genet       Date:  2015-10-28       Impact factor: 4.246
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.