In the news

  • Newsletter Edition
The PHG Foundation monthly newsletter features news and views about genetics and genetics research, from a public health perspective. The newsletter is written by staff of the PHG Foundation.


Opinion   |   By PHG Foundation   |   Published 25 January 2012

Established in 2010 as part of the Government’s response to the House of Lords Inquiry into genomic medicine, the Human Genomics Strategy Group (HGSG), under the chairmanship of Sir John Bell, has taken a wide and detailed look at the emerging technologies and considered how the NHS can reap the potential benefits both for frontline care and for public health. Their strategy sets out the potential for genomics to transform healthcare delivery in the UK, and, in so doing to ensure that the NHS is a world-class system for innovation and for the adoption of genomic knowledge and technologies.


Such a transformation is by no means a simple exercise, and the HGSG report sets out several important arms of the strategy. These include national policy leadership, a national bioinformatics services, expert advice through the National Commissioning Board, NICE diagnostics and other mechanisms to inform commissioning decisions, re-engineering of pathology services to put in place a hub and spoke network across the country, the provision of genomics training and education for health professionals, the development of public health systems to realise the potential of genomics for disease prevention and improvements in population health, and continued high quality public engagement on associated ethical, legal and social issues.


The report is to be welcomed as bringing together important themes through which genomic technologies can be used to improve health.  We particularly welcome the inclusion of a chapter on Public Health, which explicitly links genomic medicine to the health of the entire population, and invokes public health mechanisms for achieving improved outcomes. 


In this chapter, the HGSG states their belief that it is essential that local authority based Directors of Public Health understand the potential of genomic technology for public health. They set a challenge for public health systems throughout the UK to develop comprehensive engagement with genomic technologies, and the integration of genomics across all domains of practice from health protection to diagnosis, treatment and care.


The PHG Foundation has for the last 15 years been a leading international champion of public health genomics. This has entailed advocating for the importance of genetic science and genomics in promoting health and preventing disease, and for the need to bring together academics across the sciences and the humanities and social sciences, the clinical community, policy makers and the commercial sector to achieve this outcome. 


Genomic science has already delivered results in single gene and congenital disorders and in the communicable diseases for the benefit of individual and population health; it will eventually have a similar impact on patients with common chronic non-communicable diseases. 


However, as professionals concerned with the health of the population as a whole we increasingly note the gap between what can be done – the cutting edge of science and technology – and what is actually delivered equitably on the basis of health need across the population. For that, innovations have to be systematised throughout the healthcare and public health services. The HGSG recognises that this is largely not a question of more research, but of implementation: the delivery of carefully thought-out plans that will each require significant resources and commitment over a long time period to deliver.  Policy-makers, scientists, clinicians, laboratory professionals, health educators, health service managers and many others will all have roles to play.  

The HGSG report stresses the importance of education in genomics across the breadth of health professionals involved in clinical laboratories, health care and public health. In line with this, we strongly suggest that a subset of specialists in public health receive more comprehensive training in public health genomics. Their skills and experience bring the population perspective and an understanding of both commissioning and provision of health services. They are thus well placed to play a substantial change management role in health care planning, health protection and health promotion in tandem with their clinical and managerial colleagues, and so contribute to the aims of the HGSG report.

The PHG Foundation already acts as a training centre for specialist registrars in public health to gain experience in genomics, and are ready and willing to offer this resource and expertise more widely as an integral part of proposed educational strategies for the UK. 

Opinion   |   By Dr Philippa Brice   |   Published 5 January 2012

The importance of companion diagnostic development and approval as an essential corollary to the development of stratified medicines continues to attract attention.


In July 2011, US regulator the FDA announced that approval of new forms of stratified medicines was likely to require simultaneous approval of the relevant companion diagnostic, to accurately define the patient population for whom the medicine was suitable (see previous news).


M. Trevor Page, director of business development at diagnostics company Dako, which recently agreed to collaborate with pharmaceutical company Genentech on the regulatory submission of companion diagnostic tests alongside a new drug candidate for HER2-positive breast cancer, commented: “The tests are becoming almost gatekeepers to the drug”.


Diagnostics 2011, a report released by Price Waterhouse Cooper launched in December, notes a surge in partnerships between pharmaceutical and diagnostics companies prompted by this expanding area, as well as acquisitions of molecular and tissue diagnostics companies by larger pharma. However, it warns that the momentum of this trend will depend on government, regulatory and industry efforts to support innovation. 

Comment: This is indeed a complex situation requiring ongoing oversight. Experts warn that there are many ‘economic, scientific and regulatory obstacles to developing companion diagnostics’, not least the difficulty of coordinating drug and diagnostic development when the scope of a new drug’s target population often becomes clear only at late stages. Pharmaceutical companies would greatly prefer to produce drugs that are licensed for broader use wherever possible, since the financial returns are much greater, but can see the value in producing a stratified medicine from a promising compound if it proves ineffective in the general population. At the same time, the typically smaller diagnostics companies face financial risks in developing tests for drugs that may not prove effective or reach the market at all. 

In the news

News story   |   By Dr Philippa Brice   |   Published 31 January 2012

The Wellcome Trust Sanger Institute has launched an innovative new online survey to gather views on genomic information and how it should be shared.


Genetic research has traditionally ensured that samples are anonymised, and individual research findings are not shared with participants. However, it is not certain whether this approach genuinely reflects the desire of participants or indeed researchers. The new survey uses film to pose different scenarios and ask respondents their views and preferences on the ethical issues raised; it is open to anyone, including scientists and health professionals, though respondents need no prior knowledge about genetics.


The survey is part of the five-year Genome Ethics study, which is intended to guide policy decisions about the feedback of findings from whole genome sequencing studies as they become increasingly common. Researcher Dr Anna Middleton explained:  “We need to understand what people want from whole genome testing…policy is being written world wide on what researchers should share from genome studies and yet much of this is based on anecdote and intuition”.

Comment: This is a really valuable opportunity to share personal viewpoints on the sharing of genomic data and shape future practice. As whole genome sequencing moves into clinical practice, and members of the public have increasing opportunities to contribute to genomic and medical research, it is important to understand what people genuinely do and do not want to know, in terms of personal genomic information of possible medical relevance. 

News story   |   By Dr Philippa Brice   |   Published 30 January 2012

A new study has shown that women with inherited BRCA mutations have a better survival rate for ovarian cancer than women without such mutations.


Mutations in the BRCA1 and BRCA2 genes cause hereditary breast-ovarian cancer syndrome, where carriers have a substantially increased risk of developing breast and ovarian cancers, though their risk of breast cancer is higher than for ovarian cancer. Up to 10% of ovarian cancer cases may be caused by genetic defects such as BRCA mutations.


Now, research combining studies of more than 1000 mutation carriers and 2500 controls in total examined five-year survival rates following diagnosis of invasive (advanced) ovarian cancer, which were found to be 36% for non-carriers, 44% for BRCA1 mutation carriers and 52% for BRCA2 mutation carriers.

These findings may reflect biological differences between the tumours. Researcher Dr Paul Pharoah said that trials of treatments for ovarian cancers should include mutation testing, to see whether carriers respond differently from non-carriers, as a step towards potential personalisation of therapies. 

Keywords : ovary_cancerBRCA Genes

News story   |   By Rebecca Bazeley   |   Published 26 January 2012

Four months after receiving retinal implants, two California patients are ’doing well’ according to research reported in The Lancet.

The study involved injecting stem cells into the eyes of two women, one in her 70s with dry age-related macular degeneration and one in her 50s with Stargardt’s disease.  Both are leading causes of blindness.

Although it will be years before the treatment is proven to work, this ‘safety test’ suggests trials can continue.  There were also signs of a small improvement in the vision of both patients. London’s Moorfields Eye Hospital has started trialling the technique.

News story   |   By Dr Philippa Brice   |   Published 27 January 2012

The European Commission has set out proposed new rules to strengthen personal privacy, with an increased responsibility for companies to protect online data.


The new rules include would the need for more formal consent to allow companies to hold data, and a ‘right to be forgotten’ - for individuals to have their data removed on request from websites and repositories, although certain forms of personal data such as medical records would be exempted. Companies that breach the proposed code could be fined up to two percent of their annual turnover.


European commissioner in charge of data privacy, Viviane Reding, said: "The protection of personal data is a fundamental right for all Europeans, but citizens do not always feel in full control of their personal data".

The new regulations require approval from EU member states and the European Parliament before coming into force. Member states will be able to specify individual regulations about data processing in specific areas including health. 

News story   |   By Dr Philippa Brice   |   Published 25 January 2012

A new report from the government advisory body the Human Genomics Strategy Group (HGSG), Building on our inheritance, sets out a new strategic vision for how the UK can benefit from the adoption of genomic technologies in mainstream health services (see previous news).


Genomics are said to have ‘the potential to transform the delivery of healthcare in the UK’, from outbreak control, disease prevention and improvements in population health through to diagnosis and treatment, and are already delivering important benefits in medicine and public health (see examples).


The report makes recommendations on the necessary next steps to ensure that the UK remains a world leader in genomic science and medicine, and that patients and health service providers gain the maximum benefits via a ‘more informed and intelligent application of genomics and genetics’. These include:

  • A government strategy for longer-term adoption of genomic technology in the NHS ensuring translation from research into health practice.
  • Development of a bioinformatics platform and service to store genomic and phenotypic patient data.
  • A lead from the NHS National Commissioning Board (NHSCB) in the commissioning of genetic and genomic services and a ‘hub and spoke’ service delivery infrastructure.
  • New educational standards in genomics for the NHS and public health workforce
  • Ongoing public engagement on the ethical, legal and social issues associated with the use of genomics in mainstream healthcare. 

See the PHG Foundation's official response to the HGSG report.

News story   |   By Rebecca Bazeley   |   Published 24 January 2012

Taking advantage of an unusual database, researchers have been able to estimate the influence genes have on changes in our cognitive ability over a lifetime.  


The database holds results of intelligence tests taken by a cohort of over 65 year olds in Scotland. What makes the database special is that it also holds results from intelligence tests sat by the same participants as children, providing a rare insight into cognitive change over a lifetime.  


Analysis of the DNA provided by participants alongside the intelligence test results shows genes may influence 24% of changes in our intellectual performance as we age.  While the environment asserts a greater influence, genes  may help some brains age better than others.

The findings come with a health warning – the sample size is too small to provide statistical significance.  However, the Scottish study gives points to avenues worthy of further exploration once data from larger long-term studies, such as the UK National Survey of Health and Development, become available. 

News story   |   By Dr Philippa Brice   |   Published 22 January 2012

Research showing a key role for specific genetic variants in extreme longevity has been published in the open access journal PLoS ONE; the original paper was retracted from Science last summer (see previous news).


The revised paper repeats the original data analysis, excluding some genetic variants included in the earlier study, with independent replication by additional authors. An additional set of genetic data from people with an average age of 107 is also used. Therefore, whilst the precise genetic signature associated with exceptional old age is not identical, the observation that some genetic variants can show association with unusually long life-spans seems to be valid.


Geriatrician and lead researcher Dr Thomas Perls commented: "This is a useful step towards meaningful predictive medicine and personal genomics", saying that further study of the genetic variants identified could shed light on their protective role against age-related diseases.


Comment: Importantly, these genes seem to be relevant not in living longer per se, but in long-term survival beyond the age of 85; however, as the number of people living beyond this age rises thanks to medical advances, this may become increasingly relevant.

News story   |   By Dr Philippa Brice   |   Published 20 January 2012

A public consultation is to seek public views on new in vitro fertilisation (IVF) techniques involving the use of genetic material from three adults intended to create embryos free from mitochondrial diseases.

The regulatory Human Fertilisation and Embryology Authority (HFEA) has been charged jointly by the UK Secretary of State for Health and the Secretary of State for Business, Innovation and Skills to conduct this consultation.


The HFEA last year called for more information on the safety of this controversial technique (see previous news), which avoids the transmission of genetic mitochondrial diseases by using donor egg cells with healthy mitochondria but no nucleus, combined with the nucleus from the affected woman and fertilised by the man’s sperm. Resultant embryos have a small amount of genetic material from the female donor as well as the two parents. Research at Newcastle University, funded by the Wellcome Trust, will assess safety.


Meanwhile the consultation, to begin this spring, will determine how happy the general public is with the new technique which, though having to potential to prevent very serious disease, also raises some ethical concerns. David Willetts, minister for universities and science, said: "Scientists have made an important and potentially life-saving discovery in the prevention of mitochondrial disease…However, as with all developments in cutting-edge science, it is vital that we to listen to the public's views before we consider any change in the law allowing it to be used".

Report of a story in the news   |   By Rebecca Bazeley   |   Published 20 January 2012

 A gene linked to a 10-20 fold increase in risk of prostate cancer has been uncovered by scientists.

The team from John Hopkins University and University of Michigan first came across the mutation in a study of 94 families with multiple cases of prostate cancer. They found the same mutation in the HOXB13 gene in four of the families and in all eighteen of the men with prostate cancer in these four families.  Researchers further validated the findings with a much larger study of 5,100 men with prostate cancer, 1.4% of which were found to have the mutation. It was also found to be much more common among affected men who has been diagnosed at a younger age (below 55) and who had a family history of the condition with fathers or brothers who had also had prostate cancer.   Although rare, the mutation is a highly consistent indicator of early onset of the disease. With an estimated one in nine men in the UK at risk of developing prostate cancer, the mutation could prove important for identifying those who may benefit most from early and more frequent screening. Its discovery may also help pinpoint a common genetic pathway for the cancer.

Our view:

Scientists have long recognised a hereditary component to prostate cancer, a better understanding of which will lead to improved screening and outcomes for patients. The PHG Foundation is currently leading on the genetic strand of a European wide collaboration (COGS) to define individual risk of breast, ovarian, and prostate cancers, based on lifestyle factors and genetic variants. 

News story   |   By Dr Philippa Brice   |   Published 18 January 2012

An Irish fertility clinic is set to become the first in the country to offer genetic screening and pre-implantation genetic diagnosis (PGD) for serious conditions.


A new clinic in Dublin, established by the Beacon Medical Group in partnership with UK-based Care Fertility, plans to offer PGD to identify serious inherited diseases such as cystic fibrosis or haemophilia, although approval will be required from the Irish Medicines Board (IMB).


The clinic also intends to offer other forms of genetic analysis such as chromosome screening, which can help identify the healthiest egg cells and embryos for implantation, increasing success rates for in vitro fertilisation (IVF). Care Fertility Managing Director Professor Simon Fishel said that the techniques were intended to maximise the chances of healthy pregnancies and babies, and that they were “focused on developing the best outcomes for our patients”.


Comment: Anti-abortion campaigners in Ireland have reportedly condemned the technologies as violating human rights by treating lives as disposable commodities. However, the process of IVF routinely involves the selection of what seem to be the healthiest embryos produced in vitro for transfer into the mother, as these have the best chance of successful implantation and growth. The use of superior technological screening to achieve the same aim is not obviously any different. 

News story   |   By Dr Philippa Brice   |   Published 16 January 2012

The US Food and Drug Administration (FDA) has issued a warning against unregulated stem cell therapeutics.


In a statement, the regulator reminded the public to avoid any stem cell treatment that was not approved or under officially sanctioned investigation, noting that only one product (Hemacord, a cord-blood based treatment for disorders of blood cell formation) has been approved thus far. The FDA is stepping up action to clamp down on illegal stem cell treatments; Special Agent in Charge Patrick J. Holland said that such providers “offer false hope to people with incurable diseases in order to line their own pockets”.


Meanwhile the Chinese government is also taking a tough line, ordering the cessation of all unapproved stem cell treatments and clinical trials as part of a new year-long programme to improve regulation of this burgeoning sector. The Ministry of Health has said that charging patients fees for experimental stem cell applications is no longer acceptable, and has suspended new applications for stem cell programmes until July.

Comment: Stem cell treatments – including for overseas patients – has been an area of rapid growth for China and other countries such as India and Russia; whether they will follow China’s lead in exerting greater control over such activities remains to be seen. These moves will certainly be well received by the international stem cell community, where worries over the impact of unproven and unregulated treatments are mounting. 

News story   |   By Rebecca Bazeley   |   Published 13 January 2012

In an exciting breakthrough for the application of algorithms, scientists can now access complex genetic variants that have previously escaped detection.

Mathematician Zam Iqbal and computer scientist Mario Caccamo have created an innovative method to analyse genomes, called coloured de Bruijin graphs. This new approach to de novo assembly could yield insights of major medical importance, for example in infectious disease analysis where the complexity of genetic mutations and rearrangement makes mapping unreliable.

Moreover, with the associated Cortex software, scientists can, for the first time, analyse multiple genomes whilst retaining information about individual ones, allowing comparison between genomes.

Already, they’ve revealed that each person has on average 1.4 million DNA bases that are highly divergent from anything found in the reference sequence, a significant proportion of which occur within coding gene sequences and may therefore affect biological function.

"What's exciting about this method is that it opens up new ways of looking at how genomes change, from the development of cancerous tumours to the study of drug resistance in bacteria", says Professor Gil McVean, who has supervised the project since Zam moved to work in his Oxford-based group two years ago.

The paper is published today in Nature Genetics

Keywords : Genetic Databases

News story   |   By Dr Sowmiya Moorthie   |   Published 12 January 2012

Two companies have announced the release of bench-top sequencing machines which will be able to sequence whole genomes in one day.

 The Ion Proton developed by Life Technologies is based on semiconductor sequencing technology (see previous news), and aims to sequence whole-genomes at a cost of $1000 (£650) in a day.  Illumina have developed a bench-top sequencer which reportedly also gives users the option of sequencing a genome in a day.

Comment: Although these developments move us closer to the use of whole genome sequencing as a routine biomedical tool, the accuracy of such sequencing is yet to be determined. It is likely that in the first instance, such technologies will be used in a research setting and applied more to targeted exome sequencing. In addition, the time and cost of downstream processes such as data analysis and interpretation also need to be taken into consideration prior to widespread use in the clinic.


News story   |   By Dr Philippa Brice   |   Published 9 January 2012

Scientists in the US have created live monkeys from a mixture of different monkey embryo cells.


Published in the journal Cell, the research involved creation of chimeric rhesus monkeys from totipotent cells taken from up to six different early (four-cell stage) monkey embryos. Interestingly, attempts to create monkey chimeras using later stage, pluripotent embryonic stem cells failed, despite the fact that this method has been used successfully in mice.


This work is significant because it suggests that there may be fundamental differences between mouse and primate embryonic development. As much medical research directed at understanding human health and disease is based on mouse models, this distinction could be crucial if human embryos behave more like those of other primates than of mice.

Notably, the ability of embryonic stem cells to give rise to different forms of specialised tissues apparently becomes restricted earlier in monkeys than in mice, a finding that could be highly relevant to research into stem cell therapies. Commenting on the findings, Professor Robin Lovell-Badge of National Institute for Medical Research said there “may be a concern for regenerative medicine if such cells are not as flexible as hoped"

News story   |   By Dr Philippa Brice   |   Published 5 January 2012

PHG Foundation trustee Professor Patrick Sissons, Regius Professor of Physic and Head of the School of Clinical Medicine at the University of Cambridge, has been recognised in the Queen’s New Year Honours list.


Sir Patrick, who is also Vice President of The Academy of Medical Sciences and a Fellow of Darwin College, became Regius Professor of Physic and Head of the School of Clinical Medicine in Cambridge in 2005, and Director of Cambridge University Health Partners in 2009. He was knighted for ‘services to research and education in Clinical Medicine’.

For more information about Sir Patrick and our other trustees, see our Board of Directors

News story   |   By Rebecca Bazeley   |   Published 6 January 2012

A surprise discovery of a link between certain rare cancers may lead to new treatments for more common forms of the disease, say researchers.

The unexpected link was made by a Canada-based collaboration.  Examining the genomes of ovarian, uterine and testicular tumours, the team were able to trace the mutations in the tumours back to a single, specific mutation in the DICER gene. The DICER gene has a key role in the synthesis of microRNAs that in turn control hundreds of other genes.

Dr. David Huntsman, who co-led the team said "The discovery of the DICER mutation in this varied group of rare tumours is the equivalent of finding not the needle in the haystack, but rather the same needle in many haystacks."

The team is now expanding its research to identify whether mutant DICER and the pathways it controls can be modulated to treat both the rare cancers in which the mutations were discovered and more common cancers.

The findings are published in the New England Journal of Medicine.

News story   |   By Dr Philippa Brice   |   Published 11 January 2012

The UK National Health Service (NHS) is taking new steps to boost uptake of clinical innovations.


A new prototype tool for staff from the NHS Institute for Innovation and Improvement is intended to accelerate sustainable uptake of innovations and improvements. For use when decisions are being made about potential adoption of an innovation, it helps provide an assessment of the likely success identifies areas that may require strengthening to boost this probability. Users are called upon to provide feedback to refine further development.


Last month the NHS published a major new report, Innovation, health and wealth in the NHS. Part of the wider UK Strategy for Health Innovation and Life Science, it focuses on encouraging innovations that add value but not cost to the health service, and strengthening the role of NICE (National Institute for Health and Clinical Excellence) in appraisal and implementation.

Other recommendations seek to build stronger links with academic and industrial research, to create financial, operational and performance incentives to support adoption and diffusion of innovation, and to review commissioning and procurement procedures to boost both uptake of useful new approaches and cessation of those that no longer offer health benefits. 

News story   |   By Dr Philippa Brice   |   Published 10 January 2012

A new genetics education programme specifically aimed at social and behavioural scientists has been launched by the National Institutes of Health (NIH) in the US.


Developed by the National Coalition for Health Profession Education in Genetics (NCHPEG) with the NIH Office of Behavioral and Social Sciences Research (OBSSR), the online materials have been designed to provide researchers with sufficient genetics background to be able to interact productively with geneticists on interdisciplinary research projects, and to integrate genetics concepts in their own research.


Genetics and Social Science: Expanding Transdisciplinary Research features four interactive case studies based on tobacco, obesity, depression, and breast cancer, and explores key topics including genetic variation, gene-environment interactions, and population, clinical and research issues.

Comment: Appropriate education in genetics is an important means of allowing experts in other fields to engage with geneticists on projects of mutual interest, so this is a valuable initiative. Equally, genetic scientists can benefit from learning about some of the key concepts from other fields. For additional free online learning resources in the area of public health genomics, see the PHG Foundation’s interactive tutorials

Report of a story in the news   |   By Dr Philippa Brice   |   Published 7 January 2012

A new research project seeks to understand better the genetic variants that affect the risk of developing asthma, and particularly why African-Americans are affected more than other ethnic groups. 

Based at Johns Hopkins Medicine in the US, and supported by the National Heart, Lung and Blood Institute, the research will involve whole genome sequencing of 500 asthmatic and 500 non-asthmatic people. Sequencing company Illumina is to provide customised DNA microarrays to identify key genetic variants common to African-Americans that may be linked with disease risk.

Our view:

Lead researcher Dr Kathleen Barnes says the project is “an exciting opportunity to disentangle the genetic basis of a host of other diseases, not just asthma, which have a hereditary component and uniquely or disproportionately affect minorities”.

Report of a story in the news   |   By Dr Philippa Brice   |   Published 9 January 2012

The Mayo Clinic in the US is to launch an ambitious new project to develop personalised medicine.

The Mayo Clinic's Centre for Individualised Medicine will reportedly recruit thousands of patients to have either their full genome or a subset of genes linked to diseases or drug metabolism sequenced, with linkage of their genomic data to medical records to help doctors choose the most appropriate treatments and drug dosages. Director Dr Gianrico Farrugia, said: "We are convinced that whole genome sequencing is going to radically change the way we practice medicine". The project aims to determine whether it is more useful to use the new technologies to sequence the full genome or key sections only, and whether having this data available can improve patient outcomes or treatment costs. 

Our view:

PHG Foundation trustee Tim Aitman, professor of clinical and molecular genetics at Imperial College London, commented: "This is a trend that will definitely be found across the developed world in the coming two to five years” but cautioned that there were additional ethical and privacy issues that would require consideration (see previous news).

Report of a story in the news   |   By Dr Philippa Brice   |   Published 4 January 2012

A public consultation on plans to consolidate medicines regulation is being held by the Medicines and Healthcare products regulatory agency (MHRA). 

The UK regulator describes current UK medicines legislation as ‘fragmented, complex and often difficult to follow’ and plans to amend it in order to reduce the regulatory burden and contribute to productivity and growth for business and civil society, whilst underpinning their core mandate of protecting public health. The consultation period runs until 17th January 2012. 

Our view:

This review is part of a laudable process to simplify regulation and make it easier for companies and other organisations to understand and comply with legal requirements in this area. It comes at a time when smaller pharmaceutical and biotechnology companies are reportedly increasingly outsourcing clinical trials and bringing products to market to other companies that understand and can navigate the complex regulatory process more easily. 

Report of a story in the news   |   By Dr Philippa Brice   |   Published 3 January 2012

A new report sets out recommendations for the UK to work towards production of a genetic data set that is suitable for genetics, clinical, laboratory, health service commissioning and research purposes.

Funded by the UK Genetic Testing Network (UKGTN), the National Genetics Reference Laboratory (NGRL) Manchester has been working with the Department of Health Informatics Directorate to review current data sets relevant to clinical and laboratory genetics and the IT systems in use in genetics centres and other National Health Service (NHS) services.

Our view:

The report from an expert workshop held last summer outlines frameworks of data standards that would support the use of genetic data ‘by both specialists and clinical geneticists’, and of data exchange applications for genomic medicine. Recommended next steps include securing funding to develop these frameworks and investigate how to take forward testing and adoption of new standards via the Information Standards Board (ISB). 

Research articles

Analysis of a study published in a science journal   |   By Dr Sowmiya Moorthie   |   Published 30 January 2012
Study: Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencin
By: et al. (17 authors total)
In: Science Translational Medicine
What this study set out to do:

Evaluate the use of next-generation sequencing (NGS) technologies for clinical diagnosis of genetic diseases for which the exact genes involved and mode of inheritance and are uncertain.

How they went about it:

Human oxidative phosphorylation (OXPHOS) disease, which is clinically variable in presentation and can be caused by mutations in a number of mitochondrial or nuclear genes, was used as an exemplar. 42 children who showed clinical and biochemical evidence of OXPHOS were selected and exome sequencing of mitochondrial DNA and 1034 nuclear genes involved in mitochondrial function was performed. Causal variants were identified through comparison with databases that recorded genetic variation in healthy individuals.


Ten patients had mutations in causal (known disease-associated) genes and could be given a molecular diagnosis. A further thirteen patients has mutations in candidate (potentially disease-associated) genes, but the pathogenicity of these mutations is yet to be established. The study was not able to identify causal or candidates genes for the remaining patients. This may be due to a number of factors including an incomplete understanding of the molecular basis of the disease.


The pilot study shows the value of using NGS methods achieve a molecular diagnosis for those diseases which are not amenable to traditional sequencing methods. The use of these methods and its integration with biochemical and clinical knowledge can lead to improvements in care and treatment of these patients.   

Our view:

NGS technologies can help diagnose some genetically and medically variable conditions, but the inability to achieve a molecular diagnosis for many of the patients also highlights some of the issues faced in the identification and clinical interpretation of genetic variants identified by sequencing. Often further work is needed to validate and assess their pathogenicity.

New reviews and commentaries

New reviews and commentaries, 3 January 2012

Reviews & commentaries : by Dr Philippa Brice

Genomics and individuals in public health practice: are we luddites or can we meet the challenge?

Zimmern RL. J Public Health (Oxf). 2011 Dec;33(4):477-82.


Next-generation DNA sequencing, regulation, and the limits of paternalism: the next challenge.

Evans JP, Berg JS. JAMA. 2011 Dec 7;306(21):2376-7.


Full spectrum genetics.

Nat Genet. 2011 Dec 27;44(1):1. 


Merry Christmas for patients with hemophilia B.

Ponder KP. N Engl J Med. 2011 Dec 22;365(25):2424-5.


Improving validation practices in "omics" research.

Ioannidis JP, Khoury MJ. Science. 2011 Dec 2;334(6060):1230-2.


The evaluation of cascade testing for familial hypercholesterolemia.

Morris JK, Wald DS, Wald NJ. Am J Med Genet A. 2011 Dec 2.


Emerging biomedical applications of synthetic biology.

Weber W, Fussenegger M. Nat Rev Genet. 2011 Nov 29;13(1):21-35.


Uncovering the role of 5-hydroxymethylcytosine in the epigenome.

Branco MR, Ficz G, Reik W. Nat Rev Genet. 2011 Nov 15;13(1):7-13. 


Genomically humanized mice: technologies and promises.

Devoy A et al. Nat Rev Genet. 2011 Dec 16;13(1):14-20.


Pharmacogenomics and clopidogrel: irrational exuberance?

Nissen SE.JAMA. 2011 Dec 28;306(24):2727-8.


Genetic Susceptibility to Dengue

Friedrich MJ. JAMA. 2011;  306(23):2553.


Diseases in a dish: modeling human genetic disorders using induced pluripotent cells.

Tiscornia G, Vivas EL, Belmonte JC.Nat Med. 2011 Dec 6:1570-1576.


Genomics of cardiovascular disease.

O'Donnell CJ, Nabel EG. N Engl J Med. 2011 Dec 1;365(22):2098-109. 


Error of judgment

Nature. 2011 Dec 14;480(7377):291-2.


The public, political parties, and stem-cell research.

Blendon RJ, Kim MK, Benson JM. N Engl J Med. 2011 Nov 17;365(20):1853-6 

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