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5 February 2002There has been much discussion about how to manage the increasing demand for specialist genetic services from people concerned about their genetic risk of cancer. Elwyn et al present the results of a study to determine the reactions of GPs in Wales to a triaged all-Wales cancer genetics service [Elwyn, G. et al (2002) Family Practice 19, 65-71 (Abstract)]. In this system, patients who consult their GP with concerns about their risk are sent a postal questionnaire asking for a detailed family history. This is followed by a telephone consultation with a genetic counsellor who assesses their genetic risk on the basis of the Welsh referral guidelines, referral to a cancer genetics consultant for those deemed to be at "high" risk, an invitation to attend a breast clinic for those at "moderate" risk, and reassurance for those at "low" (population) risk. A group of GPs in an urban area of Wales were asked to participate in a series of moderated focus group discussions to assess their knowledge of the existence of this system and their views about its operation. In parallel with the discussion process, GPs were provided with information and educational materials to enhance their understanding of genetics and genetic risk of cancer. Elwyn et al found that GPs accepted that a triage system is unavoidable but were largely unaware that it was already in operation in Wales. They questioned the reliance, at initial stages, on a postal questionnaire and telephone consultation, fearing that these aspects would disadvantage some groups of patients. They were ambivalent about the GP's role in the system, accepting that they needed to be involved but concerned about the demands on their time. Some were also worried that it would fall to GPs to "pick up the pieces" for patients whose anxieties had not been allayed by the triage system.

Comment: Many models have been suggested for the interaction between specialist cancer genetics services and primary care. More studies such as this will be needed to test these models and develop a system that has the support of patients, GPs and genetics specialists. 

7 February 2002Twin studies have often been used to gauge the magnitude of the genetic contribution to susceptibility to common diseases. The reasoning is that monozygotic ("identical") and dizygotic twins should share similar environments, so the degree to which monozygotic twins share disease status (i.e. are "concordant") more often than dizygotic twins should give an indication of the size of the genetic component. Svendsen et al have applied this method in a study on rhematoid arthritis but rather than relying on twin volunteers, as most previous studies have done, they took a population approach, using the Danish twin registry to find twins and then measuring the "probandwise concordance rate" [Svendsen, A.J. et al (2002) BMJ 324, 264-268]. This counts only those twin pairs ascertained through a proband who independently reported rhematoid arthritis and fulfilled the study's clinical criteria. They claim that this approach minimises the ascertainment bias that is likely in other studies, in which concordant monozygotic twins tend to be over-represented, and also avoids reliance on subjects' own perception of whether they have the disease. Among 37,338 twins they found no concordant monozygotic twins by these criteria, and two concordant dizygotic twin pairs. They conclude that genes have little or no influence on susceptibility to rheumatoid arthritis.

Comment: As pointed out in an accompanying commentary by Silman, the stringent criteria for inclusion used by Svendsen et al mean that the total number of concordant twin pairs was very low and the confidence intervals very large, so firm conclusions are difficult. Other studies have implicated variants of immune system genes in susceptibility to rheumatoid arthritis but their influence appears to be more modest than in other autoimmune diseases such as multiple sclerosis. 

25 February 2002In its guidance "Research: the role and responsibilities of doctors", the General Medical Council sets out the duties of doctors involved in research in the NHS, or in the academic or private sectors. The guidance covers not just clinical trials, but "genetic studies, epidemiological research including analyses of medical records, and other collections and analyses of data about health and illness, whether anonymised or not". In addition to advice on protecting the interests and dignity of patients, the document includes detailed guidance on seeking consent and protecting confidentiality. In seeking a patient's consent, a doctor should ensure that s/he provides information about the aims of the research and why the patient has been asked to participate, the patient's legal rights and protections, the nature of the research itself, the patient's right to withdraw at any stage, how the information arising from the research will be stored and used, and whether (and in what form) information about the outcome will be given to the participant. Guidance is also given on seeking consent to obtain organs, tissues or body fluids for research purposes, from a living patient or at post-mortem.

In the area of confidentiality of medical information, some controversy about the doctor's ethical duties has arisen. In the past it has been common practice for doctors to release identifiable medical data for use in epidemiological research projects approved by research ethics committees, without the consent of those to whom the data applied. However, the implementation of the Data Protection Act of 1998 has highlighted potential legal difficulties with this practice, which could be held to contravene the doctor's common law duty of confidentiality to the patient. The GMC's guidance recommends a cautious approach, saying that the doctor "must be satisfied that express consent has been sought from the participant, wherever that is practicable". Some situations are set out in which it may not be practicable to obtain consent to disclosure of the information, for example if very large numbers of records are to be used and/or if the records are very old, and/or if disclosure of the information is deemed to be in the public interest, but the guidance seems to place on the doctor the responsibility for deciding if such conditions are fulfilled, and it appears likely that many will feel it safer to deny researchers access to any records they hold. Clarification of this area will be needed if research is not to be unnecessarily hindered, while ensuring that patients' interests are protected. 

26 February 2002Following its decision last year that it would consider applications for the use of preimplantation diagnosis to select an embryo that was both free of a serious genetic disease and a tissue match for an affected older sibling (see item in December 2001 newsletter), the HFEA has announced that it has licensed the first such application. Raj and Shahana Hashmi have been given permission to use PGD to have a baby that is unaffected by the genetic disease beta-thalassaemia, and also a tissue match for their affected three-year-old son Zain. If the procedure is successful, blood from the baby's umbilical cord would be used as a source of stem cells to treat Zain. The HFEA says that every application for the use of this procedure will be considered individually, on its own merits. In its decision last year, the HFEA indicated that permission would only be given to couples who would already be eligible for PGD to avert the birth of a child affected by a serious genetic disease. 

28 February 2002The House of Lords Select Committee on Science and Technology has cleared the way for the Human Fertilisation and Embryology Authority to grant licences for research on human embryonic stem cells (see report in BBC News On-line). Their decision endorses votes taken in parliament about a year ago, which amended the regulations governing the Human Fertilisation and Embryology Act in order to enable the HFEA to control such research (for further information, see page on Stem cells and cloning). At the time, the Government undertook that the HFEA would not grant any licences until a House of Lords committee had carefully considered all the issues. The Lords committee, chaired by the Bishop of Oxford, decided that the potential benefits of embryonic stem cell research, which may lead to the development of new treatments for conditions such as spinal injuries and neurodegenerative diseases, justified the use of early human embryos under strictly controlled regulatory conditions. It is expected that most of this work will initially use embryos discarded from IVF programmes, which would otherwise be destroyed, but the committee's decision also confirms the HFEA's authority to grant licences for research on stem cells derived from embryos produced by somatic cell nuclear replacement (so called "therapeutic cloning"). Human reproductive cloning was explicitly banned by parliament early this year. 

5 February 2002The Imperial Cancer Research Fund and the Cancer Research Campaign have now completed the process of merging to become the largest independent cancer research organisation in the world. Cancer Research UK, the new organisation, has announced plans to invest £75 million in helping to establish new research institutes in Cambridge, Oxford and Newcastle, expanding the Beatson Cancer Research Institute in Glasgow, and collaborating with the US National Cancer Institute to "exchange resources, share best practice and facilitate the exchange of ideas and information about cancer research". Cancer Research UK, with an annual budge of more then £130 million, will employ about 3,000 researchers and clinicians.