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Journal ArticleDOI

Primary care for patients at genetic risk

02 Sep 1995-BMJ (BMJ Group)-Vol. 311, Iss: 7005, pp 579-580

TL;DR: Primary care team members need further education, supported by specialist advice, if they are to bring the benefits of genetic advances to their patients, so the task is challenging.

AbstractA priority for the European Union's concerted action on genetics services Gone are the days when general practitioners could believe thatgenetics had little relevance to patients in their practice.Molecular genetics has thrown up opportunities for prevention,screening, and diagnosis, and the public is keen to have accessto them. Indeed, the forces driving community genetics may proveto be the catalysts to a general change in primary care in the21st century. The clinical use of genetics should begin with general practitioners,backed by specialists in medical genetics. Primary care teamswill need further education, supported by specialist advice,if they are to bring the benefits of genetic advances to theirpatients. The jargon of risks and probabilities makes medicalgenetics seem complex and confusing, so the task is challenging. How,for example, does a general practitioner counsel a womanwho has been told in the antenatal clinic that the serum testfor Down's syndrome gives her risk of having an affected babyas being 1 in 190, the risk being quoted in multiples of themedian? The vision of the genetic prediction of the risk ofcommon disease implies that general practitioners will be ableto answer questions from large …

Topics: European union (54%), Genetic testing (50%)

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Citations
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Book
07 May 1992
TL;DR: This chapter discusses the elements of primary care in the United States, as well as issues in primary care, including organization, financing, and access to services.
Abstract: Section I: Primary Care: Concept and Goals. 1: What is primary care?. 2: A basis for evaluating primary care. Section II: Elements of Primary Care. 3: First contact care and gatekeepers. 4: Longitudinality and managed care. 5: Comprehensiveness and benefit packages. 6: Coordination and the processes of referral. Section III: Primary Care in the United States. 7: Characteristics of practice and practitioners. 8: Organization, financing, and access to services. Section IV: Issues in Primary Care. 9: What type of physicians should provide primary care. 10: Medical records and information systems in primary care. 11: Physician-patient interactionsin primary care. 12: Quality assessment and quality improvement. 13: Community oriented primary care. Section V: Primary Care Systems. 14: Evaluation of primary care programs. 15: Cross-national comparisons of primary care. 16: A research agenda. 17: A policy agenda and epilogue

459 citations


Journal ArticleDOI
TL;DR: GPs readily identify a role for themselves in cancer genetics services, but admit to a lack of confidence in this area, calling for clear referral guidelines and specialist community support.
Abstract: Results. GPs identified their role to be: taking a family history; making appropriate referrals to specialist services; providing emotional support; teaching breast self-examination; and discussing need for screening. Lack of confidence within this role was reflected in low levels of understanding of cancer genetics and in inappropriate referral practices. Concerns were expressed about the increasingly specialist role demanded of primary care. A desire for referral guidelines and community genetics clinics was identified. Conclusions. GPs readily identify a role for themselves in cancer genetics services, but admit to a lack of confidence in this area, calling for clear referral guidelines and specialist community support. Current inappropriate referral to specialist services results from a lack of confidence in estimating cancer risk, highlighting the need for the development of clear referral criteria. Given the rapidly increasing demand for cancer genetics services and the vital role of primary care, it is important to identify a model of these services that facilitates effective involvement of GPs without further increasing their workload.

144 citations


Journal ArticleDOI
TL;DR: If satisfactory healthcare is to be achieved for people with ID, medical needs must be monitored, regular specialist reassessments offered, access to specialist services facilitated and reports clearly explained to carers.
Abstract: Background Previous work has indicated a wide range of unmet medical health needs in people with intellectual disability (ID). Methods A profile of recorded medical needs was produced for 589 people with ID through a detailed search of individual medical and nursing case records. Specialist optometric and audiological assessments were offered, and reports were provided in technical and plain English terms. A Health Watch project delivered folders with copies of the plain English reports to 60 individuals and carers. Results The case record review indicated a wide range of medical disorders; however, exact diagnoses and counselling regarding underlying neurological conditions were seldom recorded. Assessed levels of hearing and vision loss were much greater than had been previously recognized. The Health Watch reports were welcomed by the clients and carers. Conclusions If satisfactory healthcare is to be achieved for people with ID, medical needs must be monitored, regular specialist reassessments offered, access to specialist services facilitated and reports clearly explained to carers.

118 citations


Journal ArticleDOI
TL;DR: In an era of growing knowledge about genetics and health, primary-care physicians will have increasing responsibility for evaluating genetic risk and using genetic tests, and successful educational programmes will need to forge partnerships between primary care and genetics.
Abstract: In an era of growing knowledge about genetics and health, primary-care physicians will have increasing responsibility for evaluating genetic risk and using genetic tests. Although most have little knowledge of genetics, their expertise in the prudent use of technology is relevant to the task. Successful educational programmes will need to forge partnerships between primary care and genetics.

114 citations


Journal ArticleDOI
03 Jul 1999-BMJ
TL;DR: This qualitative evaluation explored the context in which a computer program for assessing genetic risk of cancer would be used in general practice and issues surrounding its integration into a consultation Most of the doctors found the program easy to use, but it affected their control of the consultation—because of their desire to share the computer screen with the patient and their inability to anticipate the information that would be displayed.
Abstract: Objectives: To explore general practitioners9 attitudes towards and use of a computer program for assessing genetic risk of cancer in primary care. Design: Qualitative analysis of semistructured interviews and video recordings of simulated consultations. Participants: Purposive sample of 15 general practitioners covering a range of computer literacy, interest in genetics, age, and sex. Interventions: Each doctor used the program in two consultations in which an actor played a woman concerned about her family history of cancer. Consultations were videotaped and followed by interviews with the video as a prompt to questioning. Main outcome measures: Use of computer program in the consultation. Results: The program was viewed as an appropriate application of information technology because of the complexity of cancer genetics and a sense of “guideline chaos” in primary care. Doctors found the program easy to use, but it often affected their control of the consultation. They needed to balance their desire to share the computer screen with the patient, driven by their concerns about the effect of the computer on doctor-patient communication, against the risk of premature disclosure of bad news. Conclusions: This computer program could provide the necessary support to assist assessment of genetic risk of cancer in primary care. The potential impact of computer software on the consultation should not be underestimated. This study highlights the need for careful evaluation when developing medical information systems. Key messages General practitioners are under increasing pressure to advise their patients about genetic predisposition to various diseases Computers could help doctors to give genetic advice by simplifying the construction and assessment of family trees and implementing referral guidelines This qualitative evaluation explored the context in which a computer program for assessing genetic risk of cancer would be used in general practice and issues surrounding its integration into a consultation Most of the doctors found the program easy to use, but it affected their control of the consultation—because of their desire to share the computer screen with the patient and their inability to anticipate the information that would be displayed The study identified important issues relating to the use of computers in consultations which may be of use in testing software for primary care in the future

85 citations


References
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01 Jan 1992

525 citations


Book
07 May 1992
TL;DR: This chapter discusses the elements of primary care in the United States, as well as issues in primary care, including organization, financing, and access to services.
Abstract: Section I: Primary Care: Concept and Goals. 1: What is primary care?. 2: A basis for evaluating primary care. Section II: Elements of Primary Care. 3: First contact care and gatekeepers. 4: Longitudinality and managed care. 5: Comprehensiveness and benefit packages. 6: Coordination and the processes of referral. Section III: Primary Care in the United States. 7: Characteristics of practice and practitioners. 8: Organization, financing, and access to services. Section IV: Issues in Primary Care. 9: What type of physicians should provide primary care. 10: Medical records and information systems in primary care. 11: Physician-patient interactionsin primary care. 12: Quality assessment and quality improvement. 13: Community oriented primary care. Section V: Primary Care Systems. 14: Evaluation of primary care programs. 15: Cross-national comparisons of primary care. 16: A research agenda. 17: A policy agenda and epilogue

459 citations


Journal ArticleDOI
23 Oct 1991-JAMA
TL;DR: Ten Western industrialized nations were compared on the basis of three characteristics: the extent of their primary health service, their levels of 12 health indicators, and the satisfaction of their populations in relation to overall costs of the systems.
Abstract: Ten Western industrialized nations were compared on the basis of three characteristics: the extent of their primary health service, their levels of 12 health indicators (eg, infant mortality, life expectancy, and age-adjusted death rates), and the satisfaction of their populations in relation to overall costs of the systems. Information was derived primarily from published sources. Indices were developed to characterize the extent of primary care in each country and the standing of each country relative to the others on the health indicators. There was general concordance for primary care, the health indicators, and the satisfaction-expense ratio in nine of the 10 countries. Ratings for the United States were low on all three measures. West Germany also had low ratings. In contrast, Canada, Sweden, and the Netherlands had generally high ratings for all three measures. The lack of concordance in the ratings in the United Kingdom may be a result of relatively low expenditures for other social services and public education in that country. The findings may add to the debate and deliberations concerning modifications in organization and financing of care that are currently being considered in the United States. (JAMA. 1991;266:2268-2271)

213 citations


"Primary care for patients at geneti..." refers background in this paper

  • ...What are the characteristics of an ideal primary care systemin relation to the needs of patients and families with geneticdisorders? Starfield has scored the British and other healthcare systems for “primary careness” characteristics; these areremarkably complementary to those of genetics services....

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Journal ArticleDOI
TL;DR: Several subtle trends will have a profound influence on the delivery of health care: the rapid growth of computer-based electronic communication, the fact that a new generation is increasingly comfortable with the electronic transfer of information, and the .
Abstract: Despite the perils of predicting the future of our health care system, many people have weighed in on how they expect the delivery of care to evolve. Such predictions are usually based on the conspicuous trend toward industrial-size delivery networks involving large populations enrolled in managed-care plans, vertically integrated medical center conglomerates, and a few giant insurance companies.1–3 In my view, several subtle trends will have a profound influence on the delivery of health care: the rapid growth of computer-based electronic communication, the fact that a new generation is increasingly comfortable with the electronic transfer of information, and the . . .

190 citations


"Primary care for patients at geneti..." refers background in this paper

  • ...Of great importance to the future of primary care is the useof computer assisted communications between specialist geneticcentres and primary care, between patients and medical databases,...

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Journal ArticleDOI
TL;DR: Today many adults are offered genetic counseling to help them make reproductive decisions, either before they attempt to achieve a pregnancy or tohelp them decide whether to continue or terminate one.
Abstract: Our ability to translate our expanding genetic knowledge into usable information for individual men and women is at best uncertain. Today many adults are offered genetic counseling to help them make reproductive decisions, either before they attempt to achieve a pregnancy or to help them decide whether to continue or terminate one. Taking a family history and, when indicated, recommending certain tests to identify carriers of genetic diseases are standard in obstetrical care. Today's screening tests usually focus on conditions that occur either in the family or in the racial or ethnic group of one or both prospective parents. As . . .

133 citations


"Primary care for patients at geneti..." refers background in this paper

  • ...The overlap between primary care and genetics services is beingtackled in the NHS's research and development strategy, whichwill include several issues. It will compare the costs and outcomesof genetic counselling and screening in primary health carewith those in genetic centres or specialist hospital services.The primary care team will need ways to inform patients aboutgenetic screening and what to expect in antenatal clinics. Thenumber and variety of different tests are rising rapidly, particularlyin antenatal clinics, and general practitioners might thereforeevaluate methods of generic consent to prepare their patientsand avoid the “misinformed consent” that may otherwise occur....

    [...]