Literature DB >> 23443997

Public attitudes regarding a pilot study of newborn screening for spinal muscular atrophy.

Erin Rothwell1, Rebecca A Anderson, Kathryn J Swoboda, Louisa Stark, Jeffrey R Botkin.   

Abstract

A population-based pilot study of newborns screening for a rare genetic condition, spinal muscular atrophy (SMA), is being conducted with funding from the National Institutes of Health. The first component of the study is to assess the ethical, legal, and social implications of population-based pilot studies with a focus on public engagement and parental decision-making for the proposed opt-out approach in this research. We conducted focus groups with members of the general public to ascertain attitudes about the pilot study and acceptability of an opt-out approach in two states, Colorado and Utah, where the pilot screening is being proposed (N = 70). We developed an informational video for the project and showed it to the groups prior to the discussion in order to inform participants about population-based research, newborn screening (NBS), permission/consent models, and SMA. Results indicated support for the conduct of pilot studies that is consistent with the current standard of practice for similar population-based programs. There was support for an opt-out approach for parental decision-making; however there was limited parental knowledge about population-based research, NBS and SMA. In general, our participants considered this pilot study to be low risk and of potential benefit to infants and families. The majority of participants were supportive of an opt-out approach with information delivered through various avenues
Copyright © 2013 Wiley Periodicals, Inc.

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Year:  2013        PMID: 23443997      PMCID: PMC3606635          DOI: 10.1002/ajmg.a.35756

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  33 in total

1.  Serving the family from birth to the medical home. Newborn screening: a blueprint for the future - a call for a national agenda on state newborn screening programs

Authors: 
Journal:  Pediatrics       Date:  2000-08       Impact factor: 7.124

2.  Pilot programs in newborn screening.

Authors:  Kenneth Pass; Nancy S Green; Fred Lorey; John Sherwin; Anne Marie Comeau
Journal:  Ment Retard Dev Disabil Res Rev       Date:  2006

3.  The qualitative content analysis process.

Authors:  Satu Elo; Helvi Kyngäs
Journal:  J Adv Nurs       Date:  2008-04       Impact factor: 3.187

4.  Questioning the Need for Informed Consent: A Case Study of California's Experience with a Pilot Newborn Screening Research Project.

Authors:  Lisa Feuchtbaum; George Cunningham; Stan Sciortino
Journal:  J Empir Res Hum Res Ethics       Date:  2007-09       Impact factor: 1.742

5.  "Casing" the research case study.

Authors:  Margarete Sandelowski
Journal:  Res Nurs Health       Date:  2010-12-28       Impact factor: 2.228

6.  Informed consent for population-based research involving genetics.

Authors:  L M Beskow; W Burke; J F Merz; P A Barr; S Terry; V B Penchaszadeh; L O Gostin; M Gwinn; M J Khoury
Journal:  JAMA       Date:  2001-11-14       Impact factor: 56.272

7.  Assessing public attitudes on the retention and use of residual newborn screening blood samples: a focus group study.

Authors:  Erin Rothwell; Rebecca Anderson; Aaron Goldenberg; Michelle H Lewis; Louisa Stark; Matthew Burbank; Bob Wong; Jeffrey R Botkin
Journal:  Soc Sci Med       Date:  2012-02-18       Impact factor: 4.634

8.  SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy.

Authors:  Markus Riessland; Bastian Ackermann; Anja Förster; Miriam Jakubik; Jan Hauke; Lutz Garbes; Ina Fritzsche; Ylva Mende; Ingmar Blumcke; Eric Hahnen; Brunhilde Wirth
Journal:  Hum Mol Genet       Date:  2010-01-22       Impact factor: 6.150

9.  Long-term follow-up after diagnosis resulting from newborn screening: statement of the US Secretary of Health and Human Services' Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children.

Authors:  Alex R Kemper; Coleen A Boyle; Javier Aceves; Denise Dougherty; James Figge; Jill L Fisch; Alan R Hinman; Carol L Greene; Christopher A Kus; Julie Miller; Derek Robertson; Joseph Telfair; Brad Therrell; Michele Lloyd-Puryear; Peter C van Dyck; R Rodney Howell
Journal:  Genet Med       Date:  2008-04       Impact factor: 8.822

10.  Phase II open label study of valproic acid in spinal muscular atrophy.

Authors:  Kathryn J Swoboda; Charles B Scott; Sandra P Reyna; Thomas W Prior; Bernard LaSalle; Susan L Sorenson; Janine Wood; Gyula Acsadi; Thomas O Crawford; John T Kissel; Kristin J Krosschell; Guy D'Anjou; Mark B Bromberg; Mary K Schroth; Gary M Chan; Bakri Elsheikh; Louise R Simard
Journal:  PLoS One       Date:  2009-05-14       Impact factor: 3.240

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  17 in total

Review 1.  A Review on Spinal Muscular Atrophy: Awareness, Knowledge, and Attitudes.

Authors:  Rebecca R Moultrie; Julia Kish-Doto; Holly Peay; Megan A Lewis
Journal:  J Genet Couns       Date:  2016-04-16       Impact factor: 2.537

Review 2.  A systematic review of approaches for engaging patients for research on rare diseases.

Authors:  Laura P Forsythe; Victoria Szydlowski; Mohammad Hassan Murad; Stanley Ip; Zhen Wang; Tarig A Elraiyah; Rachael Fleurence; David H Hickam
Journal:  J Gen Intern Med       Date:  2014-08       Impact factor: 5.128

3.  Deliberative Discussion Focus Groups.

Authors:  Erin Rothwell; Rebecca Anderson; Jeffrey R Botkin
Journal:  Qual Health Res       Date:  2015-06-15

4.  Applying public health screening criteria: how does universal newborn screening compare to universal tumor screening for Lynch syndrome in adults with colorectal cancer?

Authors:  Deborah Cragun; Rita D DeBate; Tuya Pal
Journal:  J Genet Couns       Date:  2014-10-18       Impact factor: 2.537

5.  Parental intentions to enroll children in a voluntary expanded newborn screening program.

Authors:  Ryan S Paquin; Holly L Peay; Lisa M Gehtland; Megan A Lewis; Donald B Bailey
Journal:  Soc Sci Med       Date:  2016-07-29       Impact factor: 4.634

6.  Biobanking Research and Human Subjects Protections: Perspectives of IRB Leaders.

Authors:  Erin Rothwell; Karen J Maschke; Jeffrey R Botkin; Aaron Goldenberg; Thomas H Murray; Suzanne M Rivera
Journal:  IRB       Date:  2015 Mar-Apr

7.  An Assessment of a Shortened Consent Form for the Storage and Research Use of Residual Newborn Screening Blood Spots.

Authors:  Erin Rothwell; Aaron Goldenberg; Erin Johnson; Naomi Riches; Beth Tarini; Jeffrey R Botkin
Journal:  J Empir Res Hum Res Ethics       Date:  2017-10-26       Impact factor: 1.742

8.  Pilot study of population-based newborn screening for spinal muscular atrophy in New York state.

Authors:  Jennifer N Kraszewski; Denise M Kay; Colleen F Stevens; Carrie Koval; Bianca Haser; Veronica Ortiz; Anthony Albertorio; Lilian L Cohen; Ritu Jain; Sarah P Andrew; Sally Dunaway Young; Nicole M LaMarca; Darryl C De Vivo; Michele Caggana; Wendy K Chung
Journal:  Genet Med       Date:  2017-10-12       Impact factor: 8.822

9.  Framing optional genetic testing in the context of mandatory newborn screening tests.

Authors:  Sarah E Lillie; Beth A Tarini; Nancy K Janz; Brian J Zikmund-Fisher
Journal:  BMC Med Inform Decis Mak       Date:  2015-06-27       Impact factor: 2.796

Review 10.  The translational potential of research on the ethical, legal, and social implications of genomics.

Authors:  Wylie Burke; Paul Appelbaum; Lauren Dame; Patricia Marshall; Nancy Press; Reed Pyeritz; Richard Sharp; Eric Juengst
Journal:  Genet Med       Date:  2014-06-19       Impact factor: 8.822

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