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15 May 2002The European Group on Ethics in Science and New Technologies (EGE), which advises the European Commission, has issued an opinion on the ethical aspects of patenting inventions involving human stem cells (see Stem cells and cloning page for background information). With one dissenting opinion, the EGE decided that, while it should not be possible to patent unmodified stem cells or stem cell lines, it should be possible to patent techniques for isolating stem cells or for modifying them, genetically or in other ways, in order to make them useful for a specific application. The modified stem cells themselves should also be patentable. In all cases the granting of very broad patents that could "impair further research and development" should be avoided, and the Group suggests that governments should be encouraged to have recourse to compulsory licensing if they think that a misuse of patent rights is restricting access to healthcare. Because of the strong ethical objections, in many European states, to the use of somatic cell nuclear transfer ("therapeutic cloning") to create embryos as a source of stem cells, the EGE recommends that these processes should not be patentable in Europe at present but that there should be a public debate on the issue. The Group also suggests that individuals donating, for example, eggs that may be used for work leading to a patent application, should be told of this possible use and have the option of refusing permission for it. Finally, the EGE report suggests that a publicly accessible EU registry of unmodified human stem cell lines should be set up. 

9 May 2002The Health Privacy Project at Georgetown University in the US has published a report on the extent to which the US federal Health Insurance Portability and Accountability Act (HIPAA), passed in 1996 and in force since April 2001, protects genetic information. The authors of the report point out that only organisations concerned with the processing of health information in relation to payment of health insurance claims are covered by the Act, and that other classes of people who may have access to genetic information (including family history information), for example employers, pharmaceutical companies, purveyors of genetic testing services via the internet, and many researchers, are not. Nor does the Act cover the actual tissues that are the source of DNA-based genetic information. Just over half of the individual States in the US have enacted their own legislation to protect the privacy of health information – sometimes specifically including genetic information – and where such legislation offers a higher level of protection than the federal HIPAA, it "trumps" the federal legislation. However, the report’s authors consider that additional national legislation is needed to close some of the gaps left by the HIPAA. The report also contains a useful, lay-level summary of genetics and the uses of genetic testing. 

10 May 2002The results of a new study on a white population in the UK suggest that people who are homozygous for specific variants of the gene that encodes the protein mannose-binding lectin are significantly more susceptible than others to invasive infections (pneumonia, meningitis and bacteraemia) by the bacterium Streptococcus pneumoniae [Roy, S. et al (2002) Lancet 359, 1569-1573]. Mannose-binding lectin is thought to help to clear bacteria from sites of infection; the gene variants that increase susceptibility to invasive infections have the effect of severely reducing the amount of functional MBL in the blood. Comparing 229 patients with invasive S. pneumoniae infections with 353 controls, Roy et al found that, while 5% of controls were homozygous for the variants, 10% of patients had the susceptible genotype (P=0.002). A second case-control series confirmed these results, though the significance level was not as high (P=0.046). Roy et al comment that, because of the high frequency of the susceptible alleles in most populations, these variants are likely to play a significant role in susceptibility to invasive S. pneumoniae infection worldwide. They estimate a population attributable risk of 6.7% in the population studied.

Comment: Increased understanding of the genetic variants that affect susceptibility to various infectious diseases may eventually bring health benefits in making it possible to identify individuals who will benefit most from vaccination or from specific forms of treatment. However, much more work remains to be done before population screening for such variants could be advocated.  

21 May 2002The Human Genetics Commission’s major piece of work on the use and protection of personal genetic information has culminated in the publication of its report "Inside information: balancing interests in the use of personal genetic data". The "balance" referred to in the title is spelled out in the two overarching principles underlying the report: the principles of genetic solidarity and altruism, and respect for persons. The report makes recommendations on the use of genetic information in clinical practice and medical research, and for non-clinical purposes such as insurance, employment, forensic databases and family relationship testing. Genetic information is defined broadly as "information about the genetic make-up of an identifiable person, whether derived directly from DNA (or other biochemical) testing methods or indirectly from any other source". In every case, the report concentrates on the need to achieve an optimum balance between the right and wish of people to keep their genetic information private, and their obligations to other family members and to society as a whole to share that information under some circumstances. In the clinical setting, for example, the Commission believes that the use of family history and other genetic information may be an important part of a patient’s care, and that a clinician should be able to elicit and use this information without the need to inform or seek the consent of the patient’s genetic relatives. It suggests that secondary legislation may be needed to give this recommendation legal standing.

In the area of genetic research and large genetic databases such as BioBank UK, the Commission suggests the establishment of independent oversight bodies for all such databases and recommends that databases established for medical research should not be accessible for other purposes such as forensic uses. The report stresses the importance of the informed consent of volunteers participating in this type of genetic research. It considers that one-off consent should be sufficient if identifiers are encrypted and recommends that the Government support research into robust methods for encryption for use in situations, such as this, where the encryption needs to be reversible.

Substantial sections of the report deal with the potential for unfair discrimination on the basis of a person’s genetic make-up. In the area of insurance, a five-year moratorium on the use of genetic information is currently in place. The Commission recommends that the moratorium period be used to improve the evidence base for the use of family history information by insurance companies and to explore ways of enabling those with a genetic condition to obtain access to affordable insurance products. There is currently no evidence of misuse of genetic information in the employment setting but the Commission plans to keep a watching brief on this area.

Several recommendations are made for changes in the way forensic DNA databases are assembled, maintained and used. For example, the report recommends that an independent body should be established to oversee the police’s National DNA Database, in particular with regard to the retention of the original samples and the use of the database for research into new DNA-based techniques in crime detection.

Finally, the HGC expresses concern at the lack of regulation of DNA-based parentage testing. It recommends that there should be "clear official guidelines for the use of DNA testing for child support and immigration control purposes". It also recommends that it should be made a criminal offence to obtain or analyse personal genetic information without consent, for non-medical purposes such as parentage testing.

22 May 2002In response to concern and questions from many in the medical profession and the health service, the Information Commissioner has issued legal guidance on the application of the Data Protection Act 1998 to the use and disclosure of health data. Her report aims in particular to clarify the conditions under which patient consent is required for processing health data. Problems have arisen because, although the Data Protection Act makes provision for some situations in which it may be necessary to process an individual’s health data without explicit consent (for example, for some types of epidemiological research where it would be impractical to obtain consent for the use of old health records), the first data protection principle of the Act states that data must be processed lawfully. "Lawfully" here means in compliance with the common law on confidentiality, which binds all health professionals not to release medical data to third parties without consent. The Information Commissioner’s guidance aims to resolve this apparent difficulty. The guidance states that consent is almost always required to comply with the common law, but for many routine uses of data within the health service (for example, routine record-keeping, clinical audit, or disclosure by one health professional to another), consent need not be "explicit" for each use in the terms of the Data Protection Act, but may be "implied" by the general understanding most people have of how the health service works and how their personal data may be used within that system -- provided that information about such potential uses has been given to the individual at some point, under the "fair processing" requirement set out in the Act. In deciding whether individuals should be given the opportunity to opt out of allowing their data to be used for a particular purpose, health service professionals should decide whether the purpose is essential (for example, for the patient’s care or for health service administration) or optional (for example, disclosure to a hospital chaplain); in the latter case, opting out should be allowed. The common law obligation of confidentiality is considered as having been met, without the need to seek consent, if disclosure is made under section 60 of the Health and Social Care Act 2001, which gives the Secretary of State for Health power to authorise the processing of personal medical data without consent for specific purposes such as the the diagnosis and treatment of cancer, communicable disease surveillance and a limited set of activities associated with medical research. (The first draft orders under section 60 have now been passed by parliament.) Wherever possible, however, anonymised data should be used. Appendix 1 of the Information Commissioner's Guidance sets out in tabular form some examples of uses and disclosures of information, and how they can be carried out lawfully.  

13 May 2002The International Mouse Genome Sequencing Consortium has announced that 96% of the mouse genome has been sequenced and the information deposited in publicly available databases. This level of completion is higher than that so far achieved for the human genome, for which a draft sequence was published in 2001. The mouse is an important animal model for human development and disease, and it is hoped that the availability of its complete genome sequence will aid attempts to identify the functions of human genes, many of which are shared with the mouse. Like humans, the mouse is predicted to have around 30,000 genes. The next phase of the mouse genome project will involve producing an accurate, finished sequence in which gaps are filled in and errors resolved; this work is expected to take about three years.  

22 May 2002After a stormy session in the House of Commons Standing Committee on Delegated Legislation, and a more sedate debate in the House of Lords, the UK parliament has passed the Health Service (Control of Patient Information) Regulations 2002. These regulations, made under the provisions of section 60 of the Health and Social Care Act 2001,enable the Secretary of State to approve the processing of identifiable medical data for particular purposes related to public health and medical research where it would not be practicable to seek consent or to anonymise data. The purposes covered by the first draft orders are "medical purposes related to the diagnosis or treatment of neoplasia" (in particular, the activities of cancer registries) and "communicable disease and other risks to public health (in particular, the activities of the Public Health Laboratory Service). The regulations also include provision for limited "class support" for some processing of patient data in relation to medical research projects, for example processing of data to enable researchers to contact patients to ask them if they are willing to participate in a research project, and processing of data in order to anonymise those data. Researchers wishing to carry out projects involving such activities would have to have their project approved both by a research ethics committee and the Secretary of State. In considering applications made under section 60, the Secretary of State is obliged to consider the recommendations of the Patient Information Advisory Group, also set up under the provisions of the Act. So far the Secretary of State has followed all of the PIAG's recommendations, rejecting, on their advice, three other applications including one by the Health and Safety Executive. The Human Genetics Commission has expressed the wish to be involved, with the PIAG, in assessing any future applications that may be made to use personal genetic information under section 60 powers. Any future applications will also be subject to the "affirmative procedure", which means that they must be approved by both Houses of Parliament. The Government says that it regards section 60 orders as an interim measure to protect essential health service work and medical research while working towards systems to "support the scientific community and deliver a public good while respecting patients' rights and preferences".  

2 May 2002The World Health Organisation (WHO) has released a 250-page report on the potential impact of advances in genomics on health in both the developed and developing world. For example, genomic projects on important human and animal pathogens such as those that cause malaria and tuberculosis may lead to new ways of preventing and treating infection, while research on pharmacogenetics may enable the development of drugs that are tailored to particular populations. However, the report cautions against an over-optimistic assessment of the scale of the benefits from genomics and the time taken to realise them, in particular in relation to treatment and prevention of the common diseases of the developed world. While stressing the need for a balanced approach to health improvement that continues to recognise the importance of more traditional strategies such as the reduction of poverty, the report recommends that developing countries be assisted in developing their capacity in genomics, for example in areas such as bioinformatics, and that WHO should act as an advocate against the restrictive use of patents on gene sequences. It also points out that there is much that can be done now to build and improve clinical genetic and counselling services for single-gene diseases, and programmes for genomics education of both the general public and health professionals. The importance of the ethical and social questions raised by genetics and genomics is stressed in the report, particularly in the area of genetic databases, and it is suggested that WHO could work with member states to assist them in developing regulatory structures appropriate to their needs.   2/5/02
Note added 3/5/02: The issues covered by the WHO report are summarised in an editorial by Pang and Weatherall in the BMJ 

17 May 2002Last year, three different single-nucleotide mutations in a gene known as NOD2 were shown to be associated with an increased risk of Crohn’s disease, a chronic inflammatory disease of the intestine (see item in May 2001 newsletter). In a further study, one of the three research groups that independently reported this finding has investigated whether specific mutant alleles of NOD2 (now renamed CARD15) are associated with different clinical features of the disease [Hampe, J. et al (2002) Lancet 359, 1661-1665]. Looking at both retrospective and prospectively ascertained cohorts of patients, they found that CARD15 haplotypes containing the SNP13 mutation were associated with an increased risk of disease in the ileum (p=0.006), while haplotypes containing any of the three mutant alleles seemed to increase the risk of right colon disease (p

31 May 2002Evidence is gradually accumulating on the best prophylactic options for women who carry mutations in the BRCA1 or BRCA2 gene. These women face a 60-80% lifetime risk of breast cancer and a 15-65% cumulative lifetime risk of ovarian cancer. In a prospective study, Kauff et al have compared the subsequent incidence of breast and ovarian cancer in 170 BRCA mutation carriers, over the age of 35, who chose to undergo either oophorectomy (removal of the ovaries) or surveillance for ovarian cancer [Kauff, N. et al (2002) N Engl J Med 346, 1609-1615 (Abstract)]. Of the 98 women who chose oophorectomy, one developed primary peritoneal cancer 16 months after surgery; of the 72 who chose surveillance, four were diagnosed with ovarian cancer and one with peritoneal cancer over the same period. Among those women who had not undergone prophylactic mastectomy, 3 out of 69 in the oophorectomy group developed breast cancer, compared with 8 out of 62 in the surveillance group. Combining the results for breast and ovarian cancer gave an overall hazard ratio of 0.25 for treatment by oophorectomy. Rebbeck et al report a retrospective study of 551 mutation carriers, of whom 259 opted for surveillance and 292 for oophorectomy [Rebbeck, T.R. et al (2002) N Engl J Med 346, 1616-1622 (Abstract)]. About 20% of the surveillance group developed ovarian cancer during 9 years of follow-up, compared with 1% of the oophorectomy group. These researchers also found the oophorectomy gave some protection against the development of breast cancer.

Comment: These two studies provide support for the current practice of advising BRCA mutation carriers – particularly carriers of mutations in BRCA1 – to reduce their risk of ovarian cancer by opting for oophorectomy once they have completed their family. Oophorectomy also appears to reduce the risk of subsequent breast cancer though less effectively than prophylactic mastectomy.