scholarly journals Return of Results from Research Using Newborn Screening Dried Blood Samples

2015 ◽  
Vol 43 (3) ◽  
pp. 559-568
Author(s):  
Michelle Huckaby Lewis ◽  
Aaron J. Goldenberg
Keyword(s):  
Newborn Screening ◽  
Clinical Relevance ◽  
Return Of Results ◽  
Genomic Sequencing ◽  
Ongoing Debate ◽  
Blood Samples ◽  
Research Results ◽  
Screening Programs ◽  
Research Participants ◽  
The Impact

Whether research results should be returned to participants has been an ongoing debate in the research and bioethics communities for years. The debate has become more complicated as advances in technology permit the discovery through genomic sequencing of a growing number of findings that may or may not have clinical relevance for research participants. As part of the larger conversation regarding whether and under what circumstances research results should be returned to participants, research conducted using residual newborn screening dried blood samples (DBS) deserves special consideration due to the nature of newborn screening, the recent controversy regarding the retention and use of DBS, and the impact of this controversy on state newborn screening programs.

Newborn Screening in the United States: Ethical Issues

2019 ◽  
pp. 652-663
Author(s):  
Michelle Huckaby Lewis ◽  
Jeffrey R. Botkin
Keyword(s):  
United States ◽  
Newborn Screening ◽  
Ethical Issues ◽  
New Technology ◽  
The United States ◽  
Genomic Sequencing ◽  
Newborn Period ◽  
Blood Samples ◽  
Screening Programs ◽  
Secondary Use

The purpose of newborn screening is to identify and treat infants with certain conditions prior to the onset of symptoms in order to reduce morbidity and mortality. The development of new technology, including genomic sequencing, has expanded the number of conditions that can be detected in the newborn period. Whether infants should be screened for conditions for which there is no available treatment is a subject of debate. The retention and secondary use of de-identified residual newborn screening dried blood samples without explicit parental permission have been controversial. In light of these challenges, some question whether mandatory newborn screening continues to be justified. This chapter will explore key ethical issues faced by state newborn screening programs in the United States.

scholarly journals Supporting designers: moving from method menagerie to method ecosystem

2020 ◽  
Vol 6 ◽  
Author(s):  
Kilian Gericke ◽  
Claudia Eckert ◽  
Felician Campean ◽  
P. John Clarkson ◽  
Elias Flening ◽  
...  
Keyword(s):  
Design Research ◽  
Design Methods ◽  
Design Practice ◽  
Ongoing Debate ◽  
Research Results ◽  
Alternative Pathways ◽  
Future Design ◽  
Considerable Impact ◽  
Way Of Thinking ◽  
The Impact

Abstract Supporting designers is one of the main motivations for design research. However, there is an ongoing debate about the ability of design research to transfer its results, which are often provided in form of design methods, into practice. This article takes the position that the transfer of design methods alone is not an appropriate indicator for assessing the impact of design research by discussing alternative pathways for impacting design practice. Impact is created by different means – first of all through the students that are trained based on the research results including design methods and tools and by the systematic way of thinking they acquired that comes along with being involved with research in this area. Despite having a considerable impact on practice, this article takes the position that the transfer of methods can be improved by moving from cultivating method menageries to facilitating the evolution of method ecosystems. It explains what is understood by a method ecosystem and discusses implications for developing future design methods and for improving existing methods. This paper takes the position that efforts on improving and maturing existing design methods should be raised to satisfy the needs of designers and to truly support them.

scholarly journals Improving dissemination of study results: perspectives of individuals with cystic fibrosis

2019 ◽  
Vol 15 (3-4) ◽  
pp. 1-14
Author(s):  
Emily Christofides ◽  
Karla Stroud ◽  
Diana Elizabeth Tullis ◽  
Kieran C. O’Doherty
Keyword(s):  
Cystic Fibrosis ◽  
Research Ethics ◽  
Research Results ◽  
Research Participants ◽  
Study Results ◽  
Research Findings ◽  
The Impact ◽  
To Receive ◽  
Accessible Format

The practice of communicating research findings to participants has been identified as important in the research ethics literature, but little research has examined empirically how this occurs and what research participants’ views are in this regard. We interviewed 21 adults with cystic fibrosis who had previously participated in research and 2 research coordinators at a cystic fibrosis clinic. We aimed to better understand research participants’ views on receiving research results, types of findings they are interested in, how they would like to receive this information, and the impact this might have on future participation. Participants reported that they do not generally recall receiving study findings, though many reported that they would like to receive them. While some participants were not interested in receiving results, all participants felt that these results should be provided when desired by participants and believed that receiving study findings would support future participation. Participants felt that an accessible format, such as a lay summary, would be most helpful. This study supports calls to make study findings available to participants, though the format in which they are provided requires consideration. Participants rarely recalled receiving findings despite the clinic in which this study was conducted returning them regularly. Therefore, questions pertaining to the provision of study findings must focus less on whether to share the findings and more on how to share them with participants most effectively. The logistics of providing study findings may be challenging in some cases, but participant support for the practice highlights its importance.

scholarly journals Evaluation of the clinical and economic effectiveness of newborn screening programs for inborn errors of metabolism

2020 ◽  
pp. 4-9
Author(s):  
Н.Л. Печатникова ◽  
Е.Ю. Захарова ◽  
В.Л. Ижевская
Keyword(s):  
Economic Evaluation ◽  
Newborn Screening ◽  
Inborn Errors Of Metabolism ◽  
Economic Effectiveness ◽  
Inborn Errors ◽  
Screening Programs ◽  
The Impact

В статье обобщены данные по клинико-экономической оценке программ массового неонатального скрининга на наследственные болезни обмена веществ (НБО). Обсуждаются разные подходы к их клинико-экономической оценке эффективности, влияние внедрения программ расширенного скрининга методом тандемной масс-спектрометрии на бюджет. The article summarizes the data on the clinical and economic evaluation of newborn screening programs for inborn errors of metabolism (IEM). Various approaches to the clinical and economic evaluation of the effectiveness of newborn screening programs, the impact of expanding screening programs by MS/MS on the budget are discussed.

scholarly journals Next generation sequencing in psychiatric research: what study participants need to know about research findings

2013 ◽  
Vol 16 (9) ◽  
pp. 2119-2127 ◽  
Author(s):  
Ghislaine Mathieu ◽  
Iris Jaitovich Groisman ◽  
Beatrice Godard
Keyword(s):  
Next Generation Sequencing ◽  
Human Subjects ◽  
Consent Process ◽  
Psychiatric Research ◽  
Return Of Results ◽  
Next Generation ◽  
Research Participants ◽  
Research Findings ◽  
The Impact ◽  
Generation Sequencing

Abstract The use of next generation sequencing (NGS) technologies in psychiatric genetics research and its potential to generate individual research results will likely have far reaching implications for predictive and diagnostic practices. The extent of this impact may not be easily understood by psychiatric research participants during the consent process. The traditional consent process for studies involving human subjects does not address critical issues specific to NGS research, such as the return of results. We examined which type of research findings should be communicated, how this information should be conveyed during the consent process and what guidance is required by researchers and IRBs to help psychiatric research participants understand the peculiarities, the limits and the impact of NGS. Strong standards are needed to ensure appropriate use of data generated by NGS, to meet participants' expectations and needs, and to clarify researchers' duties regarding the disclosure of data and their subsequent management. In the short term, researchers and IRBs need to be proactive in revising current consent processes that deal with the disclosure of research findings.

The Return of Results of Deceased Research Participants

2011 ◽  
Vol 39 (4) ◽  
pp. 621-630 ◽  
Author(s):  
Anne Marie Tassé
Keyword(s):  
Population Studies ◽  
Genetic Research ◽  
Family Members ◽  
Research Participant ◽  
Return Of Results ◽  
Research Results ◽  
Research Participants ◽  
Related Family ◽  
Ethical And Legal Issues

Until the mid-20th century, biomedical research centered on the study of specific diseases, concerned with short periods of time and small groups of living research participants. However, the growth of longitudinal population studies and long-term biobanking now forces the research community to examine the possibility of the death of their research participants.The death of a research participant raises numerous ethical and legal issues, including the return of deceased individuals’ research results to related family members. As with the return of individual research results for living research participants, the question of the obligation to return a deceased person’s research results to family members has yet to be settled. This question is particularly acute in the context of genetic research since the research results from one individual may have health implications for all biological relatives.

Newborn Screening for Phenylketonuria

PEDIATRICS ◽  
1982 ◽  
Vol 70 (3) ◽  
pp. 505-506
Author(s):  
Helen K. Berry ◽  
Leonard J. Porter
Keyword(s):  
American Academy ◽  
Newborn Screening ◽  
Protein Intake ◽  
Blood Samples ◽  
Screening Programs ◽  
American Academy Of Pediatrics ◽  
Affected Infant

The Committee on Genetics of the American Academy of Pediatrics recently reviewed problems of screening for phenylketonuria (PKU).1 They recognized that some affected infants will be missed by screening and made recommendations on the structure of screening programs and timing of collection of blood samples. We have also examined some of the issues regarding the reliability of screening for PKU at a given age. Several factors affect the reliability: the rate of rise in level of phenylalanine in an affected infant after birth, the effect of protein intake on the rate of rise of phenylalanine, and the sensitivity of the procedure for measuring phenylalanine.

Genomic Sequencing in Newborn Screening Programs

JAMA ◽  
2012 ◽  
Vol 307 (20) ◽  
Author(s):  
Siri Atma W. Greeley ◽  
Michael E. Msall ◽  
Kruti Acharya
Keyword(s):  
Newborn Screening ◽  
Genomic Sequencing ◽  
Screening Programs
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