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19 August 2004Researchers has shown in a study that babies born where implantation genetic diagnosis (PGD) has been used are no more likely to suffer from birth defects than babies born through a natural pregnancy. Their study, led by Yury Verlinsky at the Reproductive Genetics Institute in Chicago, US, and published in the journal Fertility and Sterility, looked at 754 babies in the United States and Italy. They compared the babies’ incidence of birth defects to that of the general population and found the rate was almost equal. There was a small increase of 0.4% in conditions such as Down’s Syndrome or spina bifida and a 2-4% increase in conditions such as cleft palate. However, these small increases can be attributed to the fact that mothers undergoing PGD tend to be older than women having normal pregnancies and maternal age is considered the main risk factor for children with birth defects.

The Human Fertilisation and Embryology Authority (HFEA) welcomed this news. It supports their recent decision to relax their restrictions on who can apply for PGD. Previously, the HFEA allowed PGD only in cases where there was potential benefit to the child to be born, by avoiding an inherited genetic disease, as well as to the ill sibling. Now parents can use PGD to choose an embryo purely on the basis of tissue type compatibility to that of an ill child. With this evidence showing that PGD is not harmful to embryos, more parents in the UK may consider applying for the procedure.

3 August 2004The UK Gene Therapy Advisory Committee (GTAC) has approved a new trial of gene therapy as a treatment for malignant forms of glioma, an aggressive type of brain tumour for which there is no effective cure. The trial will be led by researchers at the University of Glasgow Hospitals NHS Trust. GTAC chair Professor Norman Nevin commented: "Gene therapy offers enormous potential to patients with conditions such as cancer and the UK has been at the forefront of research in this area” (see BBC news report).

11 August 2004The Human Fertilisation and Embryology Authority (HFEA) has granted a license to the University of Newcastle to conduct research involving somatic cell nuclear transfer (CNR) or ‘therapeutic cloning’ of human embryos. This is believed to be the first license of its kind awarded in Europe. The research will take place at the International Centre for Life in Newcastle and will involve experts from the Institute of Human Genetics at Newcastle University and the Newcastle Fertility Centre. Newcastle researchers have already developed an embryonic stem cell line using spare IVF embryos and have deposited it in the UK Stem Cell Bank (see newsletter article May 2004). Following on from this, they will use CNR, the technique used to clone Dolly the sheep, to try to create stem cells that are genetically identical to those of a patient. According to the Newcastle group, the process requires that the nucleus is removed from a skin cell and then placed into an unfertilised egg. This egg is then stimulated to divide until a group of cells form. Stem cells are removed and then reprogrammed to grow as the cells needed by the patient. Stem cells can develop into any kind of cell so if the procedures can be perfected, the possibilities for treatment are many. For this license, however, the HFEA has stated that, “[t]he purpose of this research is to increase knowledge about the development of embryos and enable this knowledge to be applied in developing treatments for serious disease. This research is preliminary, it is not aimed at specific illnesses, but is the foundation for further development in the treatment of serious disease.”

The advantage to this technique is that the patient’s immune system should not reject the transplanted cells as they are genetically identical to the recipient. However, there are still years of work ahead to ensure the reprogrammed cells grow to be the type of cell desired. The researchers themselves expect it will be at least five years and perhaps more before patients can benefit from their research.

Alastair Balls, Chief Executive, Centre for Life said at the time the license application was made to the HFEA, "This is undoubtedly one of the most important areas of research in human fertility and genetics capable of having a transformational effect on medical treatments.” Opponents of therapeutic cloning still believe that this research should not be licensed, as it is ethically wrong and a waste of public money. There also still continues to be confusion amongst the public between therapeutic cloning and reproductive cloning to produce another human being. Reproductive cloning is illegal in the UK and is subject to fines and a 10-year prison sentence. CNR can only be conducted by a licensed facility with the approval of the HFEA.

9 August 2004The Department of Health (DH) has announced that funding is now available to support ten general practitioners who have a special interest in genetics in primary care. The need for genetics expertise is increasing in primary care settings and, as part of its commitment set out in the genetics White Paper, the DH has agreed to provide start-up funding for ten GPs with Special Interest (GPwSI) positions in genetics. GPwSI positions currently exist in areas such as ear, nose and throat and dermatology. GPs in these positions “…supplement their important generalist role by delivering a high quality, improved access service to meet the needs of a single PCT or group of PCTs.” Those who become part of the genetics GPwSI service will be expected to, for example, provide clinical leadership within their primary care organisation, help set up and coordinate local genetics or family history support services, liaise between primary care, public health and secondary care and with specialist genetic services, help colleagues find relevant information and services, support commissioning activities in genetics and provide advice and training for colleagues on how to best provide for the needs of their patients.

GPs interested in further information regarding these positions are being invited to attend a workshop on 16 September 2004 in London. Application forms and guidance documents are available from the DH website. General information about GPwSI positions can be found at the GPwSI website.

23 August 2004The Ethics and Governance Council of UK Biobank is seeking two additional members. The original call for applicants for all positions came out in April (see newsletter April 2004) but now Biobank is seeking applicants specifically with legal and scientific experience. One position will be filled with someone with expertise in legal scholarship or practice at a senior level. The second member should have significant experience in the science of population studies. Applicants are expected to have had experience serving on advisory or decision-making bodies. The deadline for applications is 12 September, with interviews taking place on 29 September.

The Council has been created to serve as an independent body to advise the UK Biobank Board of Directors on whether activities conducted as part of the project are conforming to the Ethics and Governance Framework, as well as to the interests of participants in the project and the public. UK Biobank is this country’s long-term project to build a resource for research to improve the prevention, diagnosis and treatment of illness as well as promotion of health. The aim of the UK Biobank project is to better understand how genetic and environmental factors impact our health. Volunteers aged 45-69 will donate blood and urine samples, complete a questionnaire on their lifestyle and have measurements taken. The participants will then be followed over the years, with additional information about their health and lifestyle collected. Researchers will apply to Biobank to use the data for studies, for instance, looking at factors that cause disease in later life. These studies must adhere to the principles laid out in the Ethics and Governance Framework.

Prof Alastair V. Campbell has already been appointed Chair of the Ethics and Governance Council; he will take up his post on 1 September. He is the inaugural Professor of Ethics in Medicine at the University of Bristol's School of Medicine and Director of the Centre for Ethics in Medicine. He was also vice chair of the Retained Organs Commission and served as a member of the Interim Advisory Group on Ethics and Governance for UK Biobank. The full list of Council members is expected be announced in October 2004.

5 August 2004Genetic testing for inherited susceptibility to breast and ovarian cancer is increasingly widespread in the UK and the US. Combined with increased public awareness, interest in and demand for information about genetic risk of breast cancer is rising. In this month’s edition of the Journal of the American Medical Association, a group of US researchers report on a trial of an interactive computer-based decision aid to educate and inform individuals about breast cancer risk and genetic testing [Green MJ et al. (2004) JAMA 292, 442-452]. Trial participants were women with a personal or family history of breast cancer, divided into low and high risk groups for carrying a susceptibility gene based on standard risk assessment criteria; low risk was defined as less than 10% chance of carrying a deleterious BRCA1 or BRCA2 mutation, and high risk was defined as 10% or higher chance. Within each of these groups, women were randomly assigned to receive either the interactive computer programme or a one-to-one session with a genetic counsellor. The impact on knowledge, risk perception and decision-making with respect to genetic testing for BRCA1 or BRCA2 mutations, and on participant satisfaction with the educational method was assessed for each technique. The key differences in content of the alternative educational methods were that the counselling sessions included individualized risk estimates for carrying a mutation and for developing breast cancer, and that counselling also addressed emotional concerns if raised by participants; the computer programme did not provide either of these.

A total of 211 women completed the trial. Both techniques were found to significantly improve knowledge; the computer-based method showed a higher increase in knowledge among low-risk (but not high risk) women. Perception of risk was initially high among participants; this decreased after education, most notably among low-risk women who received counselling. Intention to undergo genetic testing was initially high for both low and high-risk groups, with more than 80% indicating that they ‘probably’ or ‘definitely’ would be tested. This percentage fell significantly for the low-risk group following computer-based or counsellor education, to 67% and 36% respectively. After six months a total of 19% of low-risk and 62% of high-risk women had undergone testing; there was no significant difference between computer group and counsellor group participants.

The computer-based decision aid was found to be generally well-received and effective at increasing knowledge, especially among low-risk women. This group also showed reduced levels of perceived risk and intention to undergo genetic testing, although counselling reduced these levels still further and had a much greater impact on anxiety levels, providing reassurance to women. However, the computer programme is concluded to represent a useful tool for informing low-risk women about genetic risk and testing for breast cancer. The authors propose it would be particularly useful in primary care settings and could reduce unnecessary referrals to genetic counsellors. For women at high risk, it is proposed that the computer programme would best be used as a supplement to rather than a replacement for genetic counselling.

Comment: The authors themselves note the limitations of this trial, which included primarily white, well-educated, medically and computer literate women, a group that is not representative of the US (or UK) population as a whole. Two important additional points are raised in an editorial piece accompanying the article [Eng C (2004) JAMA 292, 496-498]. The first is that more trained genetic counsellors and specialist cancer genetics counsellors are required, irrespective of improvements in education among women at low-risk of breast cancer. The second is the need to identify such low-risk women in the primary care setting; it is suggested that education of primary care practitioners (possibly via interactive computer risk assessment tools) is necessary. Research in the UK suggests that GPs who are familiar with the internet would use such tools [Braithwaite D et al. (2002) Fam Pract.19, 587-590].