p53 gene registry

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813 Noticeboard Research and development in the NHS When Prof Michael Peckham was appointed last year to the new post of Director of Research and Development at the Department of Health, one of his first tasks was to devise a strategy for relating medical research to important health issues. Research, he had detennined,l was driven largely by the interests of clinicians and scientists in disease processes, whereas medical practice was shaped by the intellectual challenge of clinical problems. Professor Peckham has also uncovered other examples of gaps in knowledge and wasteful use of research resources: in Research for Health the first statement of the strategy for R & D in the NHS, published this week, he says that "Strongly held views based on belief rather than sound information still exert too much influence in health care. In some instances the relevant knowledge is available but is not being used, in other situations additional knowledge needs to be generated from reliable resources". At a press conference to launch the statement Professor Peckham said that some research had been found to be useless. It was important, he said, for young clinicians to undertake worthwhile research. Professor Peckham has now revealed the names of the 27- member team who will help him with this "exciting and ambitious programme". The new Central Research and Development Committee brings together senior NHS managers, leading research workers, lay members, and representatives of industry. It is, however, surprisingly short on members with experience of health-services research. The purpose of the strategy is to encourage clinicians, managers, and other staff to use the results of research in their day-to-day decision making and longer-term planning. Within 5 years, 1 ’5 % of the NHS budget is expected to be ploughed into R & D. The R & D strategy gives new responsibilities to regional health authorities (RHAs), which will be required to publish their own R & D plans by September, 1992. Regional R & D committes are to be set up, and their structure will reflect that of their central committee. In its guidance to regions,3 the NHS Management Executive says that RHAs should work closely with universities and other research interests and with NHS trusts. 1. Peckham M. Research and development for the National Health Service. Lancet 1991; 338: 367-71. 2. Research for health: a research and development strategy for the NHS. Department of Health. London: HM Stationery Office, 1991. 3. NHS research and development strategy: guidance for regions. NHS Management Executive. London: HM Stationery Office, 1991. Girls matter too In parts of ancient Greece the birth of a daughter was a bitter disappointment to most parents, and many infant girls would be left to the elements to die. Such poor regard for the female sex still exists in many countries even today. But girls should be nurtured, says a report in the latest Safe Motherhood newsletter, because the health of the next generation depends on them: a girl who grows into a healthy, confident, and strong woman has a much better chance of safe motherhood and of raising her children to reach their full potential. Even though daughters and sons equally have to cope with the hardships of poverty, many countries discriminate against girls, says the report. The favouritism shown to boys is evidenced by excessively high death rates in young girls in, for example, the Indian subcontinent, Algeria, Zimbabwe, Egypt, Madagascar, Kuwait, Ecuador, and Peru. The poor nutritional status seen more often in girls (because frequently they are given less to eat) than in boys leads to stunting and anaemia and therefore to difficulties in pregnancy and childbirth. Moreover, baby girls are likely to be weaned sooner from the breast and therefore be exposed to infection risks from contaminated formula feeds. In the face of poorer nutrition, girls have to work harder: Malaysian girls aged 5-6 years, for example, work 75% more hours than boys of the same age. Discrimination even extends to immunisation: for instance, in a community project in South Korea, equal numbers of boys and girls were immunised until a small fee was introduced, shifting the balance substantially in favour of the boys. That girls also receive less education than their brothers-many drop out because of pregnancy-reduces their chances of being able to promote their own health, lowers self-esteem, and makes them less likely to demand the improvements in care needed to lower maternal mortality. In some countries, moves to improve matters have begun. In 1990 (The Year of the Girl Child) the South Asian Association for Regional Cooperation (SAARC) focused attention on the inferior status of girls in member countries (Bangladesh, Bhutan, India, the Maldives, Nepal, Pakistan, and Sri Lanka). Plans have been formulated to: increase public awareness of the importance of the girl child via the media; raise the age of marriage; ensure that the countries take part in child development, health, nutrition, and education; and create the right environment for girls to become productive and confident young women. Education schemes have already started in Bangladesh (free primary education up to a certain grade for girls living in rural areas), Nepal (courses for groups of economically and socially deprived girls), and Tanzania, Jamaica, Dominica, Monserrat, and Saint Lucia (for adolescent mothers). Also, the discouragement of harmful traditional practices, such as genital mutilation, and encouragement of good practices, such as breastfeeding, are contributing to efforts to promote safe motherhood in Africa. Such measures can only be successful if better data--separate information about girls’ and boys’ mortality rates, for instance--are available to planners of health and education. Girls are the future of all nations, so it is high time that the scales were balanced. 1. Girlhood. Safe Motherhood, no 6, July-October, 1991. 5-7. Geneva World Health Organisation Division of Family Health. More screening guidelines Five years ago National Blue Cross/Blue Shield, as major US health insurers, asked the American College of Physicians to use its Clinical Efficacy Assessment Project to look at screening. Readers of Artnals of Internal Medicine will already have seen the results, a series of reviews of the evidence, published in 1988-91. A set of recommendations from Prof David M. Eddy, of Duke University, were issued by the college earlier this year. Blue Cross/Blue Shield, which sponsored the reviews, have chipped in with their own guidelines, so it is good to have the whole exercise in one placed The goal, Eddy writes, "was to help practitioners make decisions with their patients about screening". As the scene shifts from case- finding via opportunistic screening to the purest form of screening, at the level of a subpopulation with no symptoms at all, the public health dimension increases. In this wholly US product that dimension deserves a separate chapter, but the information is there, to supplement that from the US Preventive Services Task Force and a similar Canadian enterprise. For Blue Cross/Blue Shield, Douglas S. Peters says "yes" for hypertension, cholesterol, breast cancer, cervical cancer, and colon cancer and "no" for the resting ECG, exercise stress testing, triglycerides, diabetes, thyroid disease, osteoporosis in perimenopausal women, and lung cancer. 1. Common Screening Tests. Edited by David M. Eddy. Philadelphia: American College of Physicians. 1991. $37. Pp 417. ISBN 0-943126193. p53 gene registry Mutations of the p53 tumour suppressor gene are found in the cells of many types of malignant tumours, and predisposition to some malignancies (Li-Fraumeni syndrome, for instance) appears to be associated with inherited mutations of the p53 gene. Dr Lisa Diller and her colleagues at the Dana-Farber Cancer Institute in Boston are setting up an international registry of patients with constitutional p53 mutations in order to collect data on predisposition to cancer, spectrum of malignancy, and molecular derangements associated with their inheritance. For further information and to register please contact Lisa Diller, MD, Dana-Farber Cancer Institute, Boston, MA 02115, USA (tel 617 732-3971).

Transcript of p53 gene registry

Page 1: p53 gene registry

813

Noticeboard

Research and development in the NHS

When Prof Michael Peckham was appointed last year to the newpost of Director of Research and Development at the Department ofHealth, one of his first tasks was to devise a strategy for relatingmedical research to important health issues. Research, he haddetennined,l was driven largely by the interests of clinicians andscientists in disease processes, whereas medical practice was shapedby the intellectual challenge of clinical problems. ProfessorPeckham has also uncovered other examples of gaps in knowledgeand wasteful use of research resources: in Research for Health thefirst statement of the strategy for R & D in the NHS, published thisweek, he says that "Strongly held views based on belief rather thansound information still exert too much influence in health care. Insome instances the relevant knowledge is available but is not beingused, in other situations additional knowledge needs to be generatedfrom reliable resources". At a press conference to launch thestatement Professor Peckham said that some research had beenfound to be useless. It was important, he said, for young clinicians toundertake worthwhile research.

Professor Peckham has now revealed the names of the 27-member team who will help him with this "exciting and ambitiousprogramme". The new Central Research and DevelopmentCommittee brings together senior NHS managers, leading researchworkers, lay members, and representatives of industry. It is,however, surprisingly short on members with experience ofhealth-services research.The purpose of the strategy is to encourage clinicians, managers,

and other staff to use the results of research in their day-to-daydecision making and longer-term planning. Within 5 years, 1 ’5 % ofthe NHS budget is expected to be ploughed into R & D.

The R & D strategy gives new responsibilities to regional healthauthorities (RHAs), which will be required to publish their ownR & D plans by September, 1992. Regional R & D committes are tobe set up, and their structure will reflect that of their centralcommittee. In its guidance to regions,3 the NHS ManagementExecutive says that RHAs should work closely with universities andother research interests and with NHS trusts.

1. Peckham M. Research and development for the National Health Service. Lancet 1991;338: 367-71.

2. Research for health: a research and development strategy for the NHS. Department ofHealth. London: HM Stationery Office, 1991.

3. NHS research and development strategy: guidance for regions. NHS ManagementExecutive. London: HM Stationery Office, 1991.

Girls matter tooIn parts of ancient Greece the birth of a daughter was a bitter

disappointment to most parents, and many infant girls would be leftto the elements to die. Such poor regard for the female sex still existsin many countries even today. But girls should be nurtured, says areport in the latest Safe Motherhood newsletter, because the healthof the next generation depends on them: a girl who grows into ahealthy, confident, and strong woman has a much better chance ofsafe motherhood and of raising her children to reach their fullpotential. Even though daughters and sons equally have to copewith the hardships of poverty, many countries discriminate againstgirls, says the report. The favouritism shown to boys is evidenced byexcessively high death rates in young girls in, for example, theIndian subcontinent, Algeria, Zimbabwe, Egypt, Madagascar,Kuwait, Ecuador, and Peru. The poor nutritional status seen moreoften in girls (because frequently they are given less to eat) than inboys leads to stunting and anaemia and therefore to difficulties inpregnancy and childbirth. Moreover, baby girls are likely to beweaned sooner from the breast and therefore be exposed to infectionrisks from contaminated formula feeds. In the face of poorernutrition, girls have to work harder: Malaysian girls aged 5-6 years,for example, work 75% more hours than boys of the same age.Discrimination even extends to immunisation: for instance, in acommunity project in South Korea, equal numbers of boys and girls

were immunised until a small fee was introduced, shifting thebalance substantially in favour of the boys. That girls also receiveless education than their brothers-many drop out because ofpregnancy-reduces their chances of being able to promote theirown health, lowers self-esteem, and makes them less likely todemand the improvements in care needed to lower maternal

mortality.In some countries, moves to improve matters have begun. In

1990 (The Year of the Girl Child) the South Asian Association forRegional Cooperation (SAARC) focused attention on the inferiorstatus of girls in member countries (Bangladesh, Bhutan, India, theMaldives, Nepal, Pakistan, and Sri Lanka). Plans have beenformulated to: increase public awareness of the importance of thegirl child via the media; raise the age of marriage; ensure that thecountries take part in child development, health, nutrition, andeducation; and create the right environment for girls to becomeproductive and confident young women. Education schemes havealready started in Bangladesh (free primary education up to a certaingrade for girls living in rural areas), Nepal (courses for groups ofeconomically and socially deprived girls), and Tanzania, Jamaica,Dominica, Monserrat, and Saint Lucia (for adolescent mothers).Also, the discouragement of harmful traditional practices, such asgenital mutilation, and encouragement of good practices, such asbreastfeeding, are contributing to efforts to promote safemotherhood in Africa.

Such measures can only be successful if better data--separateinformation about girls’ and boys’ mortality rates, for instance--areavailable to planners of health and education. Girls are the future ofall nations, so it is high time that the scales were balanced.

1. Girlhood. Safe Motherhood, no 6, July-October, 1991. 5-7. Geneva World HealthOrganisation Division of Family Health.

More screening guidelinesFive years ago National Blue Cross/Blue Shield, as major US

health insurers, asked the American College of Physicians to use itsClinical Efficacy Assessment Project to look at screening. Readersof Artnals of Internal Medicine will already have seen the results, aseries of reviews of the evidence, published in 1988-91. A set ofrecommendations from Prof David M. Eddy, of Duke University,were issued by the college earlier this year. Blue Cross/Blue Shield,which sponsored the reviews, have chipped in with their ownguidelines, so it is good to have the whole exercise in one placed Thegoal, Eddy writes, "was to help practitioners make decisions withtheir patients about screening". As the scene shifts from case-finding via opportunistic screening to the purest form of screening,at the level of a subpopulation with no symptoms at all, the publichealth dimension increases. In this wholly US product thatdimension deserves a separate chapter, but the information is there,to supplement that from the US Preventive Services Task Forceand a similar Canadian enterprise. For Blue Cross/Blue Shield,Douglas S. Peters says "yes" for hypertension, cholesterol, breastcancer, cervical cancer, and colon cancer and "no" for the restingECG, exercise stress testing, triglycerides, diabetes, thyroid disease,osteoporosis in perimenopausal women, and lung cancer.

1. Common Screening Tests. Edited by David M. Eddy. Philadelphia: AmericanCollege of Physicians. 1991. $37. Pp 417. ISBN 0-943126193.

p53 gene registryMutations of the p53 tumour suppressor gene are found in the

cells of many types of malignant tumours, and predisposition tosome malignancies (Li-Fraumeni syndrome, for instance) appearsto be associated with inherited mutations of the p53 gene. Dr LisaDiller and her colleagues at the Dana-Farber Cancer Institute inBoston are setting up an international registry of patients withconstitutional p53 mutations in order to collect data on

predisposition to cancer, spectrum of malignancy, and molecularderangements associated with their inheritance. For furtherinformation and to register please contact Lisa Diller, MD,Dana-Farber Cancer Institute, Boston, MA 02115, USA (tel 617732-3971).