Non-invasive Prenatal Testing and the Unveiling of an Impaired Translation Process
Abstract
Non-invasive prenatal testing (NIPT) is an exciting technology with the potential to provide a variety of clinical benefits, including a reduction in miscarriages, via a decline in invasive testing. However, there is also concern that the economic and near-future clinical benefits of NIPT have been overstated and the potential limitations and harms underplayed. NIPT, therefore, presents an opportunity to explore the ways in which a range of social pressures and policies can influence the translation, implementation, and use of a health care innovation. NIPT is often framed as a potential first tier screen that should be offered to all pregnant women, despite concerns over cost-effectiveness. Multiple forces have contributed to a problematic translational environment in Canada, creating pressure towards first tier implementation. Governments have contributed to commercialization pressure by framing the publicly funded research sector as a potential engine of economic growth. Members of industry have an incentive to frame clinical value as beneficial to the broadest possible cohort in order to maximize market size. Many studies of NIPT were directly funded and performed by private industry in laboratories lacking strong independent oversight. Physicians' fear of potential liability for failing to recommend NIPT may further drive widespread uptake. Broad social endorsement, when combined with these translation pressures, could result in the “routinization” of NIPT, thereby adversely affecting women's reproductive autonomy. Policymakers should demand robust independent evidence of clinical and public health utility relevant to their respective jurisdictions before making decisions regarding public funding for NIPT.
Résumé
Le dépistage prénatal non effractif (DPNE) est une technologie remarquable ayant le potentiel d'offrir une multitude d'avantages cliniques, notamment une réduction des fausses couches, grâce à la diminution du nombre d'examens invasifs. Cependant, certains soupçonnent que les avantages économiques et cliniques à court terme du DPNE ont été surévalués, et ses limites et méfaits, minimisés. Il y a donc lieu d'étudier de quelle façon les pressions sociales et les politiques influencent l'application concrète, la mise en œuvre et l'utilisation d'innovations en soins de santé comme le DPNE. Malgré les réserves quant à son rapport coût-efficacité, le DPNE est souvent présenté comme un premier palier d'examen qui devrait être offert à toutes les femmes enceintes. De nombreux facteurs ont contribué à un environnement translationnel problématique au Canada, poussant à l'adoption de cette technologie comme premier palier d'examen. Les gouvernements ont exercé des pressions pour qu'on commercialise le DPNE, en présentant le secteur de la recherche financée par les deniers publics comme un possible moteur de croissance économique. Afin d'optimiser la taille de leur marché, les acteurs du secteur ont tout avantage à défendre la valeur clinique de cette technologie pour en vanter les bienfaits pour le plus grand nombre de personnes possible. Nombre d'études sur le DPNE ont été réalisées et financées directement par le secteur privé dans des laboratoires sans supervision indépendante adéquate. Par ailleurs, la crainte pour les médecins d'être tenus responsables s'ils ne recommandent pas un DPNE à leurs patientes peut aussi provoquer l'adoption généralisée de la procédure. Combinée à ces pressions de mise en application, la forte adhésion sociale pourrait mener à une « systématisation » du DPNE et, par conséquent, nuire à l'autodétermination reproductive des femmes. C'est pourquoi les décideurs devraient, avant de prendre des décisions relativement au financement public du DPNE, exiger des preuves solides et indépendantes sur sa pertinence clinique et sanitaire dans leur province ou leur territoire.
Public Health Genomics Knowledge Base (v1.2)
Last Posted: Jan-06-2017 0PM
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Last Posted: Jan 06, 2017
- Non-invasive Prenatal Testing and the Unveiling of an Impaired Translation Process
B Murdoch et al, J Ob Gyn Canada, January 2017 - Clinical experience from Thailand: noninvasive prenatal testing as screening tests for trisomies 21, 18 and 13 in 4736 pregnancies.
Manotaya S et al. Prenatal diagnosis 2016 Mar 36(3) 224-31 - Noninvasive prenatal testing in the general obstetric population: clinical performance and counseling considerations in over 85 000 cases.
Taneja Patricia A et al. Prenatal diagnosis 2016 Mar 36(3) 237-43 - Patient preferences for prenatal testing of microdeletion and microduplication syndromes.
Calonico Elise et al. Prenatal diagnosis 2016 Mar 36(3) 244-51 - Universal Haplotype-Based Noninvasive Prenatal Testing for Single Gene Diseases.
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J Harris, PHG Foundation, November 15, 2016 - Couple's Narratives of Communion and Isolation Following Abnormal Prenatal Microarray Testing Results.
Werner-Lin Allison et al. Qualitative health research 2016 Dec 26(14) 1975-1987 - Prenatal Genetic Testing of Pap Smears: Papoose?
R Lewis, PLOS Blogs, November 3, 2016 - Clinical performance of non-invasive prenatal testing (NIPT) using targeted cell-free DNA analysis in maternal plasma with microarrays or next generation sequencing (NGS) is consistent across multiple controlled clinical studies.
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Most Recent Scientific Publications from Weekly Horizon Scans
From Genomics & Health Impact Scan Database
This database includes published scientific literature on evidence-based translation of genomic discoveries into improved health care and disease prevention that have a potential impact on population health.
- Clinical experience from Thailand: noninvasive prenatal testing as screening tests for trisomies 21, 18 and 13 in 4736 pregnancies.
Manotaya S et al. Prenatal diagnosis 2016 Mar 36(3) 224-31 - Noninvasive prenatal testing in the general obstetric population: clinical performance and counseling considerations in over 85 000 cases.
Taneja Patricia A et al. Prenatal diagnosis 2016 Mar 36(3) 237-43 - Patient preferences for prenatal testing of microdeletion and microduplication syndromes.
Calonico Elise et al. Prenatal diagnosis 2016 Mar 36(3) 244-51 - Universal Haplotype-Based Noninvasive Prenatal Testing for Single Gene Diseases.
Hui Winnie W I et al. Clinical chemistry 2016 Dec - Patient Perception of Negative Noninvasive Prenatal Testing Results.
Wittman A Theresa et al. AJP reports 2016 Oct 6(4) e391-e406
From Implementation Database
This database focuses on state and national activities that integrate genomics into public health programs and clinical practice
- Genetic Program Manual for Local Health Departments (August, 2008) (Iowa)[PDF 2.45 MB]
[Disease: Multiple Diseases; Type: Tools|Program; State: Illinois]
From Guideline Database
This database contains updated guidelines, policies and recommendations on genomic research and practice, as provided by professional organizations, federal advisory groups, expert panels and policy groups.
- Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations.
Published 2015 (European Society of Human Genetics (ESHG) - Public and Professional Policy Committee) (American Society of Human Genetics (ASHG) - Social Issues Committee) - Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
Published 2015 (European Society of Human Genetics (ESHG)) (American Society of Human Genetics (ASHG)) - EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders.
Published 2015 (European Molecular Genetics Quality Network) - NSGC practice guideline: prenatal screening and diagnostic testing options for chromosome aneuploidy.
Published 2013 (National Society of Genetic Counselors) - Position Statement from the Italian College of Fetal Maternal Medicine: Non-invasive prenatal testing (NIPT) by maternal plasma DNA sequencing.
Published 2013 (Italian College of Fetal Maternal Medicine)
From HuGE Literature Finder Database
This database contains published literature on genetic associations and other human genome epidemiology
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Journal of human genetics 2016 Jul .
Sundaramurthy Srilekha, Swaminathan Meenakshi, Sen Parveen, Arokiasamy Tharigopala, Deshpande Swati, John Neetha, Gadkari Rupali A, Mannan Ashraf U, Soumittra Nagasa - Cystic Fibrosis: A Review of Associated Phenotypes, Use of Molecular Diagnostic Approaches, Genetic Characteristics, Progress, and Dilemmas.
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Owen E Patricia, Nandhlal Jenisha, Leisegang Felicity, Van der Watt George, Nourse Peter, Gajjar Pri - Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes.
American journal of obstetrics and gynecology 2015 Mar 212 (3): 332.e1-9.
Wapner Ronald J, Babiarz Joshua E, Levy Brynn, Stosic Melissa, Zimmermann Bernhard, Sigurjonsson Styrmir, Wayham Nicholas, Ryan Allison, Banjevic Milena, Lacroute Phil, Hu Jing, Hall Megan P, Demko Zachary, Siddiqui Asim, Rabinowitz Matthew, Gross Susan J, Hill Matthew, Benn Pet - The First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal Testing.
Case reports in obstetrics and gynecology 2015 2015 813104.
Rapacchia Giuseppina, Lapucci Cristina, Pittalis Maria Carla, Youssef Aly, Farina Anton
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