The bioscience news stories below have been sourced and selected from the PHG Foundation news section , where you may find fuller coverage of life science and medical news, advances in human genetics, and health-related regulatory and legal developments.

$10m prize offered for rapid genome sequencing

5 October 2006 The X-Prize Foundation, a US-based organisation that seeks to foster innovation by running high profile competitions to reward novel solutions “to the grand challenges of our time” has launched what is reportedly the largest medical prize in history. The Archon X-Prize for Genomics, worth $10m, will be awarded to the first team of scientists to devise a form of rapid genetic sequencing that allows them to decode 100 human genomes in just ten days. The winning team will be paid to map the genetic sequences of a group of 100 celebrities, benefactors and members of the public.

Despite the massive acceleration in sequencing capacity and speed over the last fifteen years, producing a full human genome sequence still takes several months and costs in excess of a million pounds. However, faster, cheaper sequencing technologies would allow multiple different genomes to be sequenced, and a database of this information could be used to learn more about gene-environment interactions and gene-disease associations. In 2004, the US National Human Genome Research Institute (NHGRI) launched a “$1000 genome” project, providing funding for research intended to develop innovative sequencing technologies to reduce the costs of genome sequencing (see previous news story); the ultimate goal is to reduce the sequencing costs for a mammalian genome to just $1000, with an interim goal of $100,000. This week the NHGRI announced research awards in excess of $13.3 million as part of this initiative (see press release). If whole genome sequencing could be achieved for under $1,000 or less, it is envisaged that it could form part of routine medical assessment and potentially allow personalised health care, whereby prevention and treatment of illness could be tailored to each individual recipient. The new prize underlines further the belief in the value of affordable, rapid genome sequencing for human health and healthcare.

However, there are concerns about the privacy of genomic information, especially if it were to become more widely available, and the potential for discrimination against individuals on the basis of such information. NHGRI head Dr Francis Collins commented: "There are real questions here of the benefits versus the risks. We need appropriate protections for people, and we need the public to engage in a policy debate". It has been suggested that the Archon X-Prize for Genomics might stimulate movement of the US Genetic Non-Discrimination bill, approved by the Senate in 2005 (see previous news story) but currently stalled in the House of Representatives (see BBC news report).

Nobel Prize for RNA interference pioneers

2 October 2006 The 2006 Nobel Prize for Medicine has been awarded to the US researchers Dr Andrew Fire (Stanford University) and Dr Craig Mello (University of Massachusetts), for their discovery of RNA interference (RNAi). Published in Nature in 1998, the discovery of RNAi revolutionised understanding of the role of RNA in the regulation of gene expression. In brief, RNA interference is a gene silencing mechanism that prevents expression of transcribed genes (conversion from messenger or mRNA molecules into protein products) via double-stranded RNA molecules; the dsRNAs activates cellular machinery that targets and selectively degrades mRNAs identical to the dsRNA sequence. Targeting specific mRNAs for destruction prevents expression of the corresponding gene.

Animal and plant genomes contain multiple microRNAs (miRNAs) that encode small portions of coding sequence, and which allow the formation of double-stranded RNAs. It is now known that this form of genetic regulation via miRNAs is important in normal cellular processes, and in the growth and development of organisms. RNA interference is also an important basic cellular defence mechanism against viruses (many of which have double-stranded RNA genomes) and mobile genetic elements such as transposons, which move via processes including the formation of double-stranded RNA intermediates and can disrupt important genomic sequences. 

The Nobel citation issued by the Swedish Karolinska Institute stated: "This year's Nobel Laureates have discovered a fundamental mechanism for controlling the flow of genetic information" (see press release). The discovery has already lead to a wide range of research applications, using specifically designed dsRNA molecules to silence specific genes; there are also prospects for harnessing the process as a therapeutic tool to treat genetic disorders, viral infections and a range of other diseases.

28 September 2006 The Council of the European Union has adopted, by a qualified majority, a common position on the draft 7th Research Framework Programme and forwarded it to the EU Parliament for next stage in the codecision process. In a press release the Council states that the document “…reflects to a great extent both the Commission’s proposal and the Parliament’s opinion as regards structure, scientific and technological content, means of implementation and budgetary resources.” Some changes have been suggested, according the Council’s statement explaining their reasoning, such as increasing the number of priority areas from 9 to 10 by splitting security research and space research to create separate thematic areas. Their stance on ethical issues remains consistent with previous versions of the draft legislation. Research on adult or embryonic human stem cells may be funded, depending on both the contents of the scientific proposal and the legal framework of the Member State(s) involved. Research into human reproductive cloning, research that will alter the human germ-line and creating embryos solely for research purposes will not be funded.

The draft legislation now moves back to the European Parliament for its second reading, tentatively scheduled on 29 November 2006. It is hoped that it will be approved at this time in order to allow the 7th Framework Programme to begin its work. If so, the first calls for proposals could be published in December 2006 (see news story).

US government body slams nutrigenomic tests

10 August 2006 Congressional investigators from the US Government Accountability Office (GAO) have added their voice to the recent warning over direct-to-consumer genetic tests by the US Federal Trade Commission (see previous news story), warning the public to beware. Nutritional genomics, or nutrigenomics, is a relatively new field that looks at how interactions between genes and diet may influence health. It is postulated that ‘personalized nutrition’, whereby analysis of genetic factors might be able to dictate the optimum healthy diet for different individuals, might one day arise from this sort of study, but the interactions between multiple genes, nutritional and other environmental factors are highly complex and as yet there is no validated evidence to support this sort of approach. However, some companies are already offering genetic tests that can reportedly provide individualised nutritional advice, and a congressional probe set out to investigate four of these internet based test providers using fictitious customer profiles, to see whether their claims were legitimate.

The advice provided was general, advocating a healthy diet and avoidance of smoking, but one company reportedly recommended a dietary supplement blend, costing more almost $2000 year, to repair damaged DNA (see GAO report). Not only was this claim totally false, but the ‘personalized’ supplement was also recommended to three different fictitious customers with different DNA, medical and lifestyle data. Another company recommended a nutritional supplement $1200 a year that proved to contain multivitamins that could be purchased in any pharmacy for around $35. The report concluded that providers of nutrigenetic tests “may mislead consumers by promising results they cannot deliver” and issue medical predictions that may either needlessly alarm or in some cases, falsely assure, consumers about their health. It called for improved regulatory oversight of the production and marketing of new forms of genetic test, adding that: “as demand for these new tests continues to rise, it will become increasingly important for consumers to have reliable information in order to determine which tests are accurate and useful”.

The Senate Special Committee on Aging (SSCA) held a special hearing on direct-to-consumer genetic tests, at which the GAO report was presented along with testimony from Kathy Hudson, Director of the Genetics and Public Policy Center, who described how such tests fall between gaps in the current regulatory framework for genetic testing in the US. The two federal agencies charged with regulating genetic tests (the FDA, which regulates tests as devices and the CMS, which regulates laboratories) also gave evidence to the Congressional hearing. The tests involved fall between these two agencies because they are developed in-house and as such have not been subject to pre-market review by FDA. Senator Gordon Smith, Chair of the SSCA, expressed his concern at potential for consumer harm and the current gaps in regulation. Asked by Sen. Smith whether FDA should plug these gaps by extending their oversight to in-house tests, Dr Steve Gutman, Director of the Office of In Vitro Diagnostics at FDA, concurred. FDA has now invited Clinical Data, the laboratory that conducts many of these tests on behalf of companies such as Sciona, to discuss the regulatory status of their tests.

Representatives from the gene-testing companies asserted that they provided an important service and had been unfairly criticized by the report.

US FTC cautions on direct-to-consumer genetic tests

10 August 2006 The US Federal Trade Commission (FTC), a US body that seeks to prevent fraudulent, deceptive, and unfair business practices in the marketplace, recently issued new guidance for consumers on over-the-counter genetic tests, entitled: At-Home Genetic Tests: A Healthy Dose of Skepticism May Be the Best Prescription. The FTC warns consumers to be wary of claims about the benefits of such genetic tests (which cost between about $100 and $1200). They note that companies’ claims about the tests – for example, that they can predict the risk of developing a particular disease, protect against disease by indicating individual nutritional requirements or assess a person’s ability to withstand certain environmental exposures such as cigarette smoke – are not substantiated.

According to the Food and Drug Administration (FDA), which regulates genetic tests; and the Centers for Disease Control and Prevention (CDC) “some of these tests lack scientific validity, and others provide medical results that are meaningful only in the context of a full medical evaluation”. For example, there are no valid scientific studies on the ability of most genetic tests to predict susceptibility to disease or environmental influences. Even where the stated ability of tests is accurate (for example, some of those that may predict how well an individual will respond to a particular drug), the FTC cautions that this information is no substitute for a proper medical evaluation by a trained health care professional, and could at best inform decisions by clinicians.

For individuals considering using an ‘at-home’ genetic test, the guidance notes that the FDA and CDC say that due to the complexities of both performing and interpreting genetic tests, they should be performed only in a specialized laboratories, and results should be interpreted by a doctor or trained genetic counsellor “who understands the value of genetic testing for a particular situation”. They urge consumers to discuss the possibility of testing and any results with a trained health care professional, and also to take steps to protect their privacy, as some genetic test providers may post results online or share personal information with third parties.

11 July 2006 The Department of Health (DH) has opened a public consultation on two sets of draft Regulations that will, when finalised, implement provisions of the EU Tissue and Cells Directive into UK law. The Directive sets out the standards for the quality and safety of the donation, procurement, testing, processing, preservation, storage and distribution of human tissues and cells. It covers tissues such as bone marrow, umbilical cord blood, sperm, eggs, embryos, bone and heart valves. It excludes blood, blood products and organs, which are covered by other EU legislation. The Directive came into force in April 2004 and was to be fully implemented into UK law by 7 April 2006. Completing this process has been delayed due to the fact that the Directive is dependent on two technical Directives being created by the European Commission. The first of these two technical Directives, Directive 2006/17/EC, covers donation, procurement and testing of human tissue and cells. The second will cover traceability, coding, processing, preservation, storage, distribution and the notification of severe adverse events. It is still being drafted, but it is expected to be published in late summer 2006.

In the UK, the Human Tissue Authority (HTA) and Human Fertilisation and Embryology Authority (HFEA) act as the competent authorities for the EU Tissue and Cells Directive. The HFEA licences and monitors centres that conduct in vitro fertilisation, donor insemination and embryo research. The HTA regulates the removal, storage, use and disposal of human bodies, organs and tissue from the living and deceased (other than gametes and embryos which are covered by the HFEA). There are plans for the HTA and the HFEA to merge to form the Regulatory Authority for Tissue and Embryos in 2008. In the meantime, the HTA and HFEA will implement the provisions in the tissues and cells Directives.

The DH has decided to transpose the three Directives through two sets of Regulations that will amend the Human Tissue Act 2004 and the Human Fertilisation and Embryology (HFE) Act 1990. As the HFE Act already regulates the licensing and storage of human gametes and embryos, the draft Human Fertilisation and Embryology Act 1990 Amendment Regulations 2006 will bring the existing standards for establishments that handle gametes and embryos in line with the requirements of the Directives. For example, the consultation document for this Regulation states that requirements will be set for “…the environmental standards required of premises, use of appropriate equipment and practices, introduction of documented quality control systems and the qualification and experience required of staff.” Establishments that were not previously subject to regulation, such as those that conduct artificial insemination using a couple’s own gametes, will now come under the HFE Act 1990. The draft Human Tissue (Quality and Safety for Human Application) Regulations 2006 include requirements for the licensing of establishments that handle human tissue, other than gametes and embryos. The storage and preservation and import and export (outside the European Economic Area) of tissues and cells for human application constitute activities that will require a license. The European Economic Area currently includes the European Union, the 25 Member States, Norway, Iceland and Liechtenstein.

The consultation is open until 13 October 2006. Information on how to submit responses is available on the DH website.

RCOG advises on umbilical cord blood banking and storage

27 June 2006 The Royal College of Obstetricians and Gynaecologists (RCOG) has updated its advice on umbilical cord blood banking and storage. RCOG had published advice for obstetricians, midwives and other healthcare practitioners on these issues in 2001, but new legislation, such as the Human Tissue Act and the EU Tissue and Cells Directive, have introduced changes. In addition, more women have been asking whether they should store their baby’s cord blood after birth. In light of these changing circumstances, the RCOG felt it was timely to update their advice.

RCOG has confirmed their opinion that there is no compelling reason for low risk families to bank their baby’s umbilical cord blood. Transplanting haemopoietic stem cells from umbilical cord blood is often a viable alternative to a bone marrow transplant. Currently, families at a high risk, for example of passing a genetic condition to their child, can bank cord blood for the future use of a family member at an established public sector cord blood bank, such as the NHS Cord Blood Bank or the Anthony Nolan Trust. These public banks also will take donations not directed for use by a particular family and provide material for transplants as required. But increasingly private companies have approached families to bank their baby’s cord blood ‘just in case’ there is a need in the future. Companies market their services in GP surgeries, antenatal clinics and directly to the public and people are uncertain whether or not to take advantage of this service. The RCOG notes that “the interest generated by the potential of [umbilical cord blood], and parental guilt for not storing their child’s stem cells, is a potent driver to commercial storage.” In response, the RCOG has recommended that only families at high-risk consider storing cord blood, as there is little evidence that low-risk families will ultimately benefit from the practice.

The RCOG also recommends that each Trust and hospital develop its own policy regarding prenatal requests for cord blood storage. The process of collecting the cord blood can have an impact on how the birth is managed and Trusts and hospitals need to ensure the family is aware of the institution’s policy. Finally, the RCOG advises that the NHS consider improving the funding for the collection and banking of unrelated cord blood and directed donations for families with genetic disorders, “…in order to provide a broad coverage and equitable access for those in need of the benefits that stem cell transplantation can achieve now, and those that may be available in the future.”

European Parliament backs FP7 plans to include funding stem cell research