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13 June 2003The Australian Law Reform Commission and the Australian Health Ethics Committee recently published a comprehensive report on the protection of human genetic information in Australia. The culmination of a two-year inquiry, the 1200-page report, entitled "Essentially Yours", covers a wide range of contexts in which genetic information is or could be used, including kinship testing, insurance and employment, law enforcement, and medical research and practice. A major recommendation is the establishment of a Human Genetics Commission of Australia, to provide advice to both the federal and state governments on the implications of advances in genetics and "a consultative mechanism for the development of policy statements and national guidelines in this area".

The report recommends harmonisation of the current patchwork of privacy legislation and, interestingly, that this legislation should be extended to cover identifiable genetic samples as well as information derived from them. Like the UK Human Genetics Commission, the inquiry recommends that there should be a new law making non-consensual genetic testing a criminal offence and that there should be tighter regulation of genetic testing used to establish parentage. In the area of the forensic use of genetic testing, recommendations include strengthened procedures to prevent coercive testing, the development of national minimum standards for the collection, handling and analysis of samples, and (unlike current practice in the UK) the destruction of both samples and DNA profiles once a suspect has been cleared or charges dropped.

The report does not follow the usual line of recommending that insurers should be banned from using genetic test information, arguing that this would be an unjustified departure from the fundamental principle of equal information sharing in risk-rated (mutual) insurance. It does, however, urge that insurers should be obliged to justify their use of genetic information (including family history information) and should provide clear reasons for any unfavourable underwriting decisions. On the other hand, the use of genetic testing by employers should not be allowed, the report states, except in certain situations where it may be necessary to protect health and safety; the new HGCA should draw up guidelines for policy and practice in this area.

In medical research and practice, recommendations include more effective regulation of genetic testing kits, better ethical oversight of genetic samples and information used in research (particularly with respect to the issue of consent for future unspecified research), expanded provision of genetic counselling services, development of nationally consistent standards for population screening programmes, and amendment of the Privacy Act to permit, in some circumstances, disclosure of genetic information to close relatives who are affected by it.

The full report on the web is accompanied by useful briefing notes summarising the conclusions on various issues.  

19 June 2003A British couple who used the services of a US clinic to select an embryo that would be tissue match for their four-year-old son, who suffers from a rare form of anaemia, have announced the birth of a son (see report in BBC News On-line). The couple, Michelle and Jayson Whittaker, hope that cord blood from the new baby can be used as a source of stem cells to treat his older brother. The Human Fertilisation and Embryology Authority refused the couple permission to have the procedure carried out in the UK because the disease the couple's older son suffers from was not inherited from his parents. The HFEA decided that the Human Fertilisation and Embryology Act only allows the use of preimplantation genetic diagnosis (PGD) to avoid the birth of a child suffering from a severe inherited disease. For this reason, it decided that another British couple, the Hashmis, could use PGD with tissue matching to select an embryo that was both free of the inherited disease thalassaemia and a tissue match for an affected older sibling. Liberal Democrat MP Evan Harris has called for Parliament to reconsider the Human Fertilisation and Embryology Act so that couples such as the Whittakers can be treated in the UK.

24 June 2003Earlier this month, the Council of Health Ministers of the member countries of the European Union approved the latest version of a draft Directive "setting standards of quality and safety for the donation, procurement, testing, processing, storage and distribution of human tissues and cells". The text of the Directive has had a chequered history, most recently including the addition of a raft of amendments by the European Parliament, some of which ran directly counter to some current UK legislation on aspects of embryo research, particularly so-called therapeutic cloning (see item in March newsletter, including supplementary note added in April).

The European Commission has accepted only 35 of the Parliament's 76 amendments, and only 16 of those in whole. It has accepted the widening of the scope of the Directive to make it clear that it applies to cells and tissues used for therapies other than transplantation, for example reproductive medicine; for this reason the term "human application" replaces "transplantation" in many places.. The Commission also accepted the Parliament's proposals with regard to encouraging the non-profit procurement of cells and tissues, but has watered down the actual wording. However several other "ethical provisions" introduced by the Parliament have been firmly rejected in the new draft text, for the reason that they fall outside the scope of a Directive intended to provide public health protection. Thus, the new text contains none of the restrictions on stem cell research that were included in the Parliament's version, while stating that individual member states are free to impose restrictions if they wish. The Commission's text also restores the statement (contradicted by the Parliament's version) that the Directive does not apply to cells and tissues used for research, except those destined for use in clinical trials.

The draft Directive must now be considered again by the European Parliament, as part of the EU's co-decision process, but it is likely that the views of the Commission and the Council of Ministers will ultimately prevail.  

10 June 2003The Government has firmly rebutted a highly critical report on the conduct of the Medical Research Council that was published earlier this year by the House of Commons Science and Technology Committee (see item in March newsletter). The tone of the Government response is set from the first page, which lists comments the Government has received from scientists supportive of the MRC's record and critical of the evidence base on which the Select Committee relied for its report. Much of the Committee's report, and the Government's response, deals with the way in which the MRC has managed its funds and organised its system of grants. Particular attention is devoted to the UK Biobank project, which the Select Committee criticised as inadequately peer-reviewed and taking insufficient care to protect the interests of participants. The Government rejects both of these charges. It defends the way in which the project was peer-reviewed and the decision not to publish reviewers' comments that had been solicited in confidence. It also lists the steps that have already been taken and are planned for the future to consult the public about how the Biobank project will operate. For example, a Communications Director is to be appointed later this year, and a 50-strong Public Panel is being set up. Work is underway to develop robust data security systems for the project. The composition of the project's independent oversight body is currently under consideration, but the Government points out that the membership of the oversight body will be made public so any participants who became members of this group, as suggested by the Committee, would have to accept that their anonymity as participants would be compromised.

The MRC has welcomed the Government response to the Science and Technology Committee's report.

27 June 2003Simultaneously with the release of its White Paper detailing strategic investment in genetics in the NHS, the UK Government has responded to a report on genetic information by its main advisory group on genetics, the Human Genetics Commission. The HGC report, Inside Information, published in May 2002, discussed both medical and non-medical uses of genetic information, including applications in medical research, parentage testing and family relationships, insurance and employment. The Government's response broadly welcomes the HGC report and points out that several of its recommendations have already been acted upon, for example its suggestion that an independent group should be appointed to provide ethical oversight to the UK Biobank project, and that the period of the moratorium on the use of genetic test results in insurance should be used for research on this issue. Work is also underway on improving the handling of patient data confidentiality in the NHS in general, and on a new edition of the Department of Health's Research Governance Framework for Health and Social Care, which sets out standards for all health-related research ( a draft was issued in April 2003).

The Government accepts the HGC's recommendation that non-consensual genetic testing should become a criminal offence, and has also included this commitment in its White Paper. However, it appears less persuaded by some of the HGC's recommendations on the forensic use of DNA. It does not propose, for example, to prohibit access to Biobank samples by police and considers that sufficient sanctions are in place to prevent improper use. The HGC also recommended that there should be independent oversight of the large and rapidly growing National DNA Database, currently the responsibility of the Forensic Science Service, the Home Office and the Association of Chief Policy Officers. The Government comments that this recommendation has been taken into account in a review of arrangements for the Database but does not say what conclusion the review, due to be published later this summer, has reached. The Government does accept that the new arrangements allowing samples provided voluntarily for elimination purposes during a criminal investigation to be retained in the database should be underpinned by two separate consent processes: one for the initial taking of the sample, and another allowing its permanent retention.

On the issue of parentage and family relationship testing, the Government notes the HGC's concerns about the sensitive and intrusive nature of such tests when used by the Child Support Agency or immigration services, but appears satisfied with the guidelines that are currently in place.  More detailed comments on private paternity testing services may emerge when the Government responds to the HGC's recent report on the supply of genetic testing services directly to the public. 

12 June 2003Scientists at the Roslin Institute, home of the world's first cloned mammal, Dolly the sheep, have been granted a licence by the Human Fertilisation and Embryology Authority to carry out research into improving ways of obtaining and culturing stem cells from human embryos (see HFEA press release). They will work on "spare" embryos left over from IVF treatments and will also be able to use embryos created by parthenogenesis. Parthenogenesis involves stimulating eggs to produce embryos without fertilisation by sperm. Embryos produced in this way are not capable of developing to term, a fact that researchers hope may mute some of the criticisms that have been levelled at embryonic stem cell research. Any stem cell lines produced at the Roslin Institute will be lodged in the UK's national stem cell bank.  

26 June 2003On 24 June the long-awaited White Paper on genetics was unveiled in Parliament by the new Health Secretary John Reid. The Paper promises a raft of new measures, supported by £50 million of investment over 3 years, to strengthen existing genetic services and to plan for the time when genetics and genetic technology will be increasingly integrated into a broad range of health services.

Plans for boosting existing specialist genetic services include a commitment to train more genetic counsellors and laboratory staff, and to invest up to £18 million over the next three years to enable NHS genetics laboratories to cut waiting times for test results. There are strong indications that there is likely to be a radical re-organisation of testing services in the future. The Paper calls for local bids for funding to develop strategies to "increase capacity and maximise quality", including options such as integrating genetics and pathology laboratory services, amalgamating existing laboratories and involving the private sector. Up to £1 million is pledged for improving IT systems used by laboratories in the UK Genetic Testing Network.

Genetics already plays a part in the detection and management of single-gene subsets of common disease, and the Paper announces new initiatives in this area. For example, a pilot programme of family "cascade" tracing for familial hypercholesterolaemia will be set up, a model of care for people at risk of familial cancer will be trialled, and funding is announced for other initiatives "to bring the benefits of genetics into mainstream clinical areas". Primary care genetics is identified as a high-priority area, with up to an additional £2 million of start-up funding available for new initiatives. Population screening programmes are also discussed but, with the exception of the imminent national antenatal and/pr neonatal screening programmes for Down syndrome and some single-gene conditions (haemoglobinopathies and cystic fibrosis), are thought to be some way in the future. Nevertheless, the Government rather surprisingly charges the Human Genetics Commission with the task of assessing the issues involved in screening all babies at birth and storing samples for future analysis through the child's lifetime.

Education and training of health professionals is identified as a priority for investment. An NHS Genetics Education and Development Centre will be established to identify the learning needs of different groups, develop appropriate curricula and produce learning materials. Web-based materials will be developed for a genetics section of the National electronic Library for Health and within NHS Direct. Support will be provided for commissioners and managers of genetic services, through a programme of local workshops.

Development of the evidence base and of robust IT systems will be essential if aspects of an individual's genetic profile are to be used to inform his or her health care. The White Paper outlines a programme of health technology assessment, much of which is already underway, and promises that genetics will be included in informatics initiatives such as the development of a unified medical terminology and of electronic patient records.

The research base in genetics is already strong and the Paper summarises initiatives such as the Genetics Knowledge Parks and UK Biobank. Gene therapy, pharmacogenetics and service research are particularly singled out for additional research investment. For example, a new university Chair and department in pharmacogenetics will be established, and pilot studies of "near-patient" genetic testing (for example, to identify infectious agents) will be supported. Gene therapy for single-gene diseases is seen as relatively disadvantaged compared to research on gene-based approaches to therapy for common disease, and this is redressed with a pledge of £5 million, half of which will go to research on gene therapy for cystic fibrosis. The exploitation of intellectual property generated by NHS-funded research is seen as important for the health service and society as a whole. A Government-funded report on this issue will be published this summer.

In its final chapter, the Paper acknowledges the wider societal issues raised by developments in genetics and genomics, in the context of the need to maintain public confidence as new applications are developed. It outlines the Human Genetics Commission's work in addressing these issues, for example its recent reports on genetic information and on "over the counter" genetic tests, but generally avoids specific policy commitments, except in announcing that it will introduce a new criminal offence of testing an individual's DNA without their knowledge or consent, and that it is working with other countries towards an international ban on human reproductive cloning.  

4 June 2003The US Senate Committee on Health, Education Labor and Pensions has approved a bill that would prohibit insurers from using genetic test information in deciding whether to offer insurance coverage to an applicant, or in setting premiums (see news item in Washington Post). Employers would not be allowed to use genetic test information in recruitment or in dealing with issues such as promotion. The Bush administration has indicated that it supports the legislation, which still has to be passed by the House of Representatives before it becomes federal law. The rationale for the legislation, which follows several years of wrangling in Congress, is that it will remove any fear of discrimination that may be preventing people from deciding to take genetic tests that could be of clinical benefit to them. Those who oppose the legislation argue that, apart from a few isolated cases and some anecdotal evidence, there is little indication that insurers or employers are using genetic test information to discriminate unfairly against people. They also argue that the legislation creates a dangerous precedent in that it violates the fundamental principle of equality of information on which mutual or risk-rated insurance is based. At present the effect of this legislation on insurance companies is likely to be very small, as the diseases for which highly predictive genetic tests are available are generally rare. Insurers in general are more concerned with retaining the right to use family history information, which they regard as an important indicator of risk for common disease.  

20 June 2003It has been estimated that about a third of the variation in blood pressure between individuals is heritable, and several large studies have been mounted in attempts to identify the genes underlying susceptibility to this trait. Success has been conspicuously lacking so far, with a very large US study failing to find any chromosomal region that showed significant linkage to blood pressure. However Caulfield et al, reporting the results of the MRC-funded BRIGHT study in the UK, point to a region near one end of chromosome 6 that was significantly associated with blood pressure [Caulfield, M et al (2003) Lancet 361, 2118-2123]. The study involved analysing the DNA of 2010 affected sibling pairs from 1599 families with severely elevated blood pressure (in the top 5% of the population distribution). Individuals were excluded if they were extremely overweight or had other medical conditions such as diabetes or renal disease. The study involved scanning the whole genome to look for regions containing genetic variants that were shared between affected sibling pairs more often than would be expected by chance. As well as the region on chromosome 6, other less strongly implicated regions were identified on chromosomes 2, 5 and 9. The authors of the study now plan to try to pinpoint the causative genes within the regions of interest and to test any candidates that emerge, to see whether a plausible biological explanation can be found for their involvement in blood pressure.

Comment: The reason for the success of this study where other large investigations have failed may be the decision to restrict recruitment to severely affected families rather than studying a more heterogeneous population. Nevertheless, it is important that the results of the study are replicated independently before they can be considered firm. An accompanying rapid review article by Harrap discusses some of the difficulties involved in tracking down the genetic variants involved in susceptibility to common conditions. He concludes that, even if the task of providing a complete genetic description of susceptibility to hypertension remains elusive, the identification of just one or a few variants with a proven association with the condition could lead to the development of new treatments and preventive agents.