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Hall A.,PHG Foundation | Bostanci A.,Hughes Hall Center for Biomedical Science in Society | Wright C.F.,PHG Foundation
Public Health Genomics | Year: 2010

Cell-free fetal DNA and RNA circulating in maternal blood can be used for the early non-invasive prenatal diagnosis (NIPD) of an increasing number of genetic conditions, both for pregnancy management and to aid reproductive decision-making. Here we present a brief review of the scientific and clinical status of the technology, and an overview of key ethical, legal and social issues raised by the analysis of cell-free fetal DNA for NIPD. We suggest that the less invasive nature of the technology brings some distinctive issues into focus, such as the possibility of broader uptake of prenatal diagnosis and access to the technology directly by the consumer via the internet, which have not been emphasised in previous work in this area. We also revisit significant issues that are familiar from previous debates about prenatal testing. Since the technology seems to transect existing distinctions between screening and diagnostic tests, there are important implications for the form and process involved in obtaining informed consent or choice. This analysis forms part of the work undertaken by a multidisciplinary group of experts which made recommendations about the implementation of this technology within the UK National Health Service. Copyright © 2010 S. Karger AG, Basel.


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.


Biesecker L.G.,National Human Genome Research Institute | Burke W.,University of Washington | Kohane I.,Boston Childrens Hospital | Plon S.E.,Texas Childrens Hospital | 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.


Dent T.H.S.,PHG Foundation
Atherosclerosis | Year: 2010

This is the first of two articles reviewing recent findings about the risk of coronary heart disease. This paper is concerned with conventional risk factors; the second will review novel molecular biomarkers, genetic markers of risk and the future of risk prediction.Predicting exactly the future occurrence of coronary heart disease (CHD) is not possible, but the risk can be estimated with models based on cohort studies. Most existing models are based on long-standing research on the residents of Framingham, Massachusetts. The findings from Framingham yield inaccurate results when applied to contemporary populations elsewhere. In particular, they may exacerbate health inequalities. This is because the incidence of and mortality from CHD have fallen recently, the Framingham cohort differs from many groups to which findings from it have been applied, important risk factors such as ethnicity, socio-economic deprivation and family history are absent from the Framingham equations and susceptibility to risk factors varies between populations. Attempts to recalibrate or adjust the Framingham equations to improve their performance have not been shown to overcome these problems.SCORE, QRISK, PROCAM and ASSIGN are risk prediction models that have been developed based on different cohorts. The group developing NICE's guideline on lipid modification was uncertain about which risk prediction model to recommend for use in the NHS. Eventually they selected a modified version of the Framingham equation. However, QRISK appears to offer the best long-term promise. © 2010 Elsevier Ireland Ltd.


Wright C.F.,PHG Foundation | Gregory-Jones S.,PHG Foundation
Genetics in Medicine | Year: 2010

There has been enormous interest in the recent development of consumer genomics services, but very little is known about their impact. Using publicly available information, we estimate that the market for genetic susceptibility tests for complex diseases is much smaller than previously suggested, and hence consider that regulation through restrictive statutory legislation may be excessive. Copyright © American College of Medical Genetics.


Wright C.F.,PHG Foundation | Hall A.,PHG Foundation | Zimmern R.L.,PHG Foundation
Genetics in Medicine | Year: 2011

The number of genetic tests available direct-to-consumer has burgeoned over the last few years, prompting numerous calls for tighter regulation of these services. However, there is a lack of consensus about the most appropriate and achievable level of regulation, particularly given the global nature of the market. By consideration of potential for direct and indirect harms caused by genetic susceptibility or genomic profiling tests, in this study we offer an overarching framework that we believe to be feasible for the regulation of direct-to-consumer genetic tests and likely to be relevant to other forms of predictive testing. We suggest that just five key requirements would adequately protect the consumer: a proportionate set of consent procedures; formal laboratory accreditation; evidence of a valid gene-disease association; appropriately qualified staff to interpret the test result; and consumer protection legislation to prevent false or misleading claims. © 2011 Lippincott Williams & Wilkins.


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.


Wright C.F.,PHG Foundation | Kroese M.,PHG Foundation
Human Genetics | Year: 2010

Recent research into the human genome has generated a wealth of scientific knowledge and increased both public and professional interest in the concept of personalised medicine. Somewhat unexpectedly, in addition to increasing our understanding about the genetic basis for numerous diseases, these new discoveries have also spawned a burgeoning new industry of 'consumer genetic testing'. In this paper, we present the principles learnt though the evaluation of tests for single gene disorders and suggest a comparable framework for the evaluation of genetic tests for susceptibility to common complex diseases. Both physicians and the general public will need to be able to assess the claims made by providers of genetic testing services, and ultimately policy-makers will need to decide if and when such tests should be offered through state funded healthcare systems. © 2009 Springer-Verlag.


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.

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