Challenges in the clinical application of whole-genome sequencing

Ormond, Kelly E.; Wheeler, Matthew T.; Hudgins, Louanne; Klein, Teri E.; Butte, Atul J.; Altman, Russ B.; Ashley, Euan A.; Greely, Henry T.

doi:10.1016/s0140-6736(10)60599-5

Cited by 211 publications

(183 citation statements)

References 3 publications

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“…[53][54][55][56] However, analysis and interpretation of genome data are complex processes and give rise to a number of issues and challenges that have to be overcome. [57][58][59] Clinical implementation of NGS technologies will require standardization and integration of analysis pipelines and databases, and appropriate informatics support to facilitate medical decision making. These will require investment in information technology, informatics infrastructure, personnel, and training within health services, policy development regarding data sharing and privacy, and the establishment of a robust and centrally managed evidence base for clinical interpretation of genomic variants.…”

Section: Resultsmentioning

confidence: 99%

Informatics and clinical genome sequencing: opening the black box

Moorthie

Hall

Wright

2013

Genetics in Medicine

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Adoption of whole-genome sequencing as a routine biomedical tool is dependent not only on the availability of new high-throughput sequencing technologies, but also on the concomitant development of methods and tools for data collection, analysis, and interpretation. It would also be enormously facilitated by the development of decision support systems for clinicians and consideration of how such information can best be incorporated into care pathways. Here we present an overview of the data analysis and interpretation pipeline, the wider informatics needs, and some of the relevant ethical and legal issues. 2013:15(3):165-171 Genet Med

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Section: Resultsmentioning

confidence: 99%

Informatics and clinical genome sequencing: opening the black box

Moorthie

Hall

Wright

2013

Genetics in Medicine

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“…In addition, there will need to be a mechanism to provide social, emotional and clinical support for families receiving difficult news. With this in mind, proper counselling of the parents will be a lengthy, difficult and expensive process as many more genetic personnel will have to be recruited for this purpose alone (Ormond et al, 2010;Feero, 2013).…”

Section: Economic Considerationsmentioning

confidence: 99%

Challenges of using next generation sequencing in newborn screening

Reinstein

2015

Genet. Res.

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SummaryWhole-genome and whole-exome sequencing for clinical applications is now an integral part of medical genetics practice. The term newborn screening refers to public health programs designed to screen newborns for various treatable metabolic conditions, by measuring levels of circulating blood metabolites. The availability and significant decrease in sequencing costs has raised the question of whether metabolic newborn screening should be replaced by whole-genome or whole-exome sequencing. While newborn genome sequencing can potentially increase the number of disorders identified by newborn screening, the generalization of its practice raises a number of important ethical issues. This short article argues that there are medical, psychological, ethical and economic reasons why widespread dissemination of newborn screening is still premature.

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“…Challenges include multidisciplinary cooperation, merging of different cultures and practices (from within and outside of clinical genetics), and the development of appropriate genetic competencies in all actors involved. It is expected that similar challenges are also involved in the implementation of other novel genetic services, for example, the expansion or introduction of genetic screening programs (e.g., preconception carrier testing and noninvasive prenatal testing (ACOG Committee on Genetics and SMFM Publications Committee 2012; Grody et al 2013) and clinical application of next generation sequencing (Ormond et al 2010)). …”

Section: Developments In Genetic Service Provisionmentioning

confidence: 99%

Developing a framework for implementation of genetic services: learning from examples of testing for monogenic forms of common diseases

Rigter

Henneman

Broerse³

et al. 2014

J Community Genet

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Genetics in health care is shifting, and responsibilities of genetic and nongenetic specialists are changing, requiring new guidance on how to adapt health care to advances in genetic services. This paper explores facilitators and barriers in the process of implementation of innovations in genetic health care. Furthermore, lessons learnt for optimizing development of new genetic services are summarized. Barriers and facilitators in transition processes were identified using mixed methods, including an online open-ended questionnaire among professionals and an international expert meeting. A multi-case study approach was used to explore recent experiences with innovations in genetic services in different phases of implementation. Barriers encountered in transitions in genetic service provision include the following: lack of genetic knowledge and skills among nongenetic health care providers, resistance to new divisions of responsibilities, and a need for more close collaboration and communication between geneticists and nongeneticists. Facilitating factors include the following: statutory registration of genetic specialists, availability of essential staff and equipment, and existence of registries and guidelines. Other challenges are experienced in the establishment of the appropriate legal and financial structures. A set of points to consider for genetic innovation processes is proposed, addressing, e.g., transition management and cooperation and communication strategies.

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Challenges in the clinical application of whole-genome sequencing

Cited by 211 publications

References 3 publications

Informatics and clinical genome sequencing: opening the black box

Informatics and clinical genome sequencing: opening the black box

Challenges of using next generation sequencing in newborn screening

Developing a framework for implementation of genetic services: learning from examples of testing for monogenic forms of common diseases

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