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Biesecker L.G.,National Human Genome Research Institute | Burke W.,University of Washington | Kohane I.,Boston Childrens Hospital | Plon S.E.,Human Genome Sequencing Center | Zimmern R.,PHG Foundation
Nature Reviews Genetics | Year: 2012

We are entering an era in which the cost of clinical whole-genome and targeted sequencing tests is no longer prohibitive to their application. However, currently the infrastructure is not in place to support both the patient and the physicians that encounter the resultant data. Here, we ask five experts to give their opinions on whether clinical data should be treated differently from other medical data, given the potential use of these tests, and on the areas that must be developed to improve patient outcome. © 2012 Macmillan Publishers Limited. All rights reserved.


Yi H.,Chinese University of Hong Kong | Hallowell N.,PHG Foundation | Griffiths S.,Chinese University of Hong Kong | Leung T.Y.,Chinese University of Hong Kong
PLoS ONE | Year: 2013

Background: A newly introduced cell-free fetal DNA sequencing based non-invasive prenatal testing (DNA-NIPT) detects Down syndrome with sensitivity of 99% at early gestational stage without risk of miscarriage. Attention has been given to its public health implications; little is known from consumer perspectives. This qualitative study aimed to explore women's motivations for using, and perceptions of, DNA-NIPT in Hong Kong. Methods and Findings: In-depth interviews were conducted with 45 women who had undertaken DNA-NIPT recruited by purposive sampling based on socio-demographic and clinical characteristics. The sample included 31 women identified as high-risk from serum and ultrasound based Down syndrome screening (SU-DSS). Thematic narrative analysis examined informed-decision making of the test and identified the benefits and needs. Women outlined a number of reasons for accessing DNA-NIPT: reducing the uncertainty associated with risk probability-based results from SU-DSS, undertaking DNA-NIPT as a comprehensive measure to counteract risk from childbearing especially at advanced age, perceived predictive accuracy and absence of risk of harm to fetus. Accounts of women deemed high-risk or not high-risk are distinctive in a number of respects. High-risk women accessed DNA-NIPT to get a clearer idea of their risk. This group perceived SU-DSS as an unnecessary and confusing procedure because of its varying, protocol-dependent detection rates. Those women not deemed high-risk, in contrast, undertook DNA-NIPT for psychological assurance and to reduce anxiety even after receiving the negative result from SU-DSS. Conclusions: DNA-NIPT was regarded positively by women who chose this method of screening over the routine, less expensive testing options. Given its perceived utility, health providers need to consider whether DNA-NIPT should be offered as part of universal routine care to women at high-risk for fetal aneuploidy. If this is the case, then further development of guidelines and quality assurance will be needed to provide a service suited to patients' needs. © 2013 Yi et al.


This is the second of two articles reviewing recent findings about the risk of coronary heart disease. This paper is concerned with novel molecular biomarkers, genetic markers of risk and the future of risk prediction. © 2010 Elsevier Ireland Ltd.


Brice P.,PHG Foundation
Biochemist | Year: 2016

Personalized medicine is a hot topic internationally, although alternative terms such as stratified or precision medicine are used interchangeably to describe the same concept, or different aspects of the same concept. This is the recognition that individuals vary in their responses to a given treatment, and that the course of the same disease in two different patients may be very different. Of course, this is well known to the medical profession, who already strive to treat patients as individuals at some level, but now we are seeing a major expansion in their capacity to do so - thanks to the genomic revolution. © Biochemical Society.


Moorthie S.,PHG Foundation | Hall A.,PHG Foundation | Wright C.F.,PHG Foundation | Wright C.F.,Wellcome Trust Sanger Institute
Genetics in Medicine | Year: 2013

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. Copyright © 2012, American College of Medical Genetics and Genomics.

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