The 'new genetics' and primary care: GPs' views on their role and their educational needs.
TL;DR: If primary care is to become more involved in the delivery of genetic services in the future, then a major educational effort is required to raise awareness of the potential scope and limitations of new developments.
Abstract: BACKGROUND Given the limited specialist resources available to cope with the rising demand for genetic services, it has been proposed that at least some of these services are provided by primary care in the future. OBJECTIVE We aimed to explore GPs' attitudes towards new developments in genetics, to establish the role they envisage for primary care and to clearly define the education, information and training needed to support them in this role. METHODS We carried out a qualitative study with GPs using four focus groups (26 GPs) and 15 individual semi-structured interviews. RESULTS GPs perceive genetics as an important and increasingly relevant topic for primary care. Views on the appropriate level of involvement for primary care are mixed. GPs currently lack the relevant knowledge and skills to manage patients concerned about their family history. Other potential barriers to increasing primary care involvement included the time and costs involved, and ethical and legal concerns. CONCLUSION If primary care is to become more involved in the delivery of genetic services in the future, then a major educational effort is required to raise awareness of the potential scope and limitations of new developments.
Citations
More filters
TL;DR: The patient’s family history remains a critical element in risk assessment for many conditions, but substantive barriers impede application in primary care practice, and evidence for its contribution to improved health outcomes is limited in this setting.
Abstract: OBJECTIVE: The purpose of this paper is to review the role of the family history in predictive genetic testing, describe how family history taking is practiced in adult primary care, identify the current barriers to appropriate application of the family history, and outline the requirements for a new family history tool for primary care. DESIGN: We reviewed current perspectives on the family history, identifying key references in the medical literature and web-based family history tools through discussions with multiple content experts in clinical genetics, family medicine, and internal medicine. We conducted a Medline query using the search terms family history and primary care to identify references from the past 10 years. To illustrate the usefulness of family history information, we calculated the predictive value of family history and genetic information for familial adenomatous polyposis using current references and standard formulas. We identified paper and web-based family history tools through discussions with content experts. We also conducted a search on the World Wide Web to identify resources for electronic medical record and family history. RESULTS: The family history is the most important tool for diagnosis and risk assessment in medical genetics, and promises to serve as a critical element in the use of predictive genetic testing in primary care. Traditional medical education about family history has often been unsophisticated and use of family history in adult primary care has been limited, compounded by multiple substantive barriers. Although there are numerous paper and computer-based aides for taking the family history, none currently meets all the needs of adult primary care. CONCLUSIONS: The patient’s family history remains a critical element in risk assessment for many conditions, but substantive barriers impede application in primary care practice, and evidence for its contribution to improved health outcomes is limited in this setting. Short of radical changes in reimbursement, new tools will be required to aid primary care physicians in the efficient collection and application of patient family history in the era of genetic testing.
323 citations
TL;DR: Although many primary care physicians perceive genetics as a low practice priority, they do report a need for educational programs in genetics, informational resources, and referral guidelines.
246 citations
TL;DR: The overall knowledge levels of genetics in many nongeneticist health care providers show clear deficiencies, in line with reports from other countries, showing that these deficiencies are a global problem.
211 citations
TL;DR: The implications of genetic advances for primary care, how genetic medicine could be integrated intoPrimary care, and the skills that primary care practitioners will need to provide advice are discussed.
Abstract: The likely increases in availability of DNA based tests and demand by patients for genetic information and advice mean that primary care practitioners will need to become genetically literate. 1 2 Genetic medicine is already beginning to enter the realms of primary care through the availability of testing for predisposition to certain cancers and carrier screening and diagnostic tests for common recessive disorders such as cystic fibrosis and hereditary haemochromatosis. For the near future these issues will probably remain the focus of genetic medicine in primary care, but this could shift if pharmacogenetic research fulfils even some of its early promises.
We discuss the implications of genetic advances for primary care, how genetic medicine could be integrated into primary care, and the skills that primary care practitioners will need to provide advice.
#### Summary points
Primary care practitioners need to become genetically literate
Currently the most important elements for primary care are prediction of risk of certain cancers and carrier screening for common autosomal recessive conditions such as cystic fibrosis
Pharmacogenetics will become increasingly relevant in decisions around prescribing
Integrating elements of genetic medicine into primary care will require the development of generic skills in genetic risk assessment and communication
A multifaceted approach, including community genetic counsellors, primary care genetic specialists, educational programmes, and computerised decision support, is required to support the acquisition of genetic skills in primary care
We searched Medline and Embase for relevant papers, combining terms relating to primary care and clinical genetics. We included papers identified from a previous systematic review of primary research on the role of family practice in genetics3 and relevant papers published subsequently. The papers were heterogeneous in their focus and methods, and, when appropriate, we state the evidence on which our statements are based.
As more is learned about the genetic aspects of …
198 citations
TL;DR: Evidence from pilot studies of cystic fibrosis screening provides the strongest evidence for the feasibility of providing genetic services in primary care, and potential methods of supporting primary care in the provision of genetics services are defined.
Abstract: Background In response to growing demands on genetics departments and advances in genetic medicine, it has been proposed that primary care should provide a frontline service in clinical genetics. However, there are concerns that primary care may be unwilling or ill prepared to take on this new role. Objectives This study aimed to review systematically the literature exploring the role of primary care in delivering genetic services, and define potential methods of supporting primary care in the provision of genetics services. Methods Seven electronic databases were searched. This was complemented by contacting experts in the field and handsearching reference lists. In total, 230 papers were identified, including traditional reviews, of which 96 were examined in detail. Fifty-one papers are included in this review. On account of the heterogeneity of papers identified, we conducted a qualitative synthesis of the results, focusing on five key questions. Results GPs accept that they have an increasing role to play in genetics, but lack confidence in their ability to do so because of limited knowledge of clinical genetics. Evidence from pilot studies of cystic fibrosis screening provides the strongest evidence for the feasibility of providing genetic services in primary care. Conclusions Although genetic issues currently constitute a relatively small part of the overall workload in primary care, this will almost certainly change in the light of new genetic discoveries. Educational programmes and referral guidelines, computer decision support and genetic nurse specialist outreach clinics may provide useful methods of supporting GPs in the new field of primary care genetics.
183 citations
References
More filters
TL;DR: The Nature of Qualitative Inquiry Theoretical Orientations Particularly Appropriate Qualitative Applications as mentioned in this paper, and Qualitative Interviewing: Qualitative Analysis and Interpretation Enhancing the quality and credibility of qualitative analysis and interpretation.
Abstract: PART ONE: CONCEPTUAL ISSUES IN THE USE OF QUALITATIVE METHODS The Nature of Qualitative Inquiry Strategic Themes in Qualitative Methods Variety in Qualitative Inquiry Theoretical Orientations Particularly Appropriate Qualitative Applications PART TWO: QUALITATIVE DESIGNS AND DATA COLLECTION Designing Qualitative Studies Fieldwork Strategies and Observation Methods Qualitative Interviewing PART THREE: ANALYSIS, INTERPRETATION, AND REPORTING Qualitative Analysis and Interpretation Enhancing the Quality and Credibility of Qualitative Analysis
31,305 citations
Journal Article•
TL;DR: The Nature of Qualitative Inquiry Theoretical Orientations Particularly Appropriate Qualitative Applications as mentioned in this paper, and Qualitative Interviewing: Qualitative Analysis and Interpretation Enhancing the quality and credibility of qualitative analysis and interpretation.
22,714 citations
Book•
14 Feb 1994TL;DR: In this article, the authors present a survey of the focus group research, focusing on the following topics: planning the group study, developing a questioning route, participants in a focus group, moderating skills, and conducting interviews with young people.
Abstract: PREFACE ACKNOWLEDGEMENTS 1. Overview of Focus Groups 2. Planning the Focus Group Study 3. Developing a Questioning Route 4. Participants in a Focus Group 5. Moderating Skills 6. Analyzing Focus Group Results 7. Reporting 8. Styles of Focus Group Research 9. Focus Group Interviews With Young People 10. International and Cross-Cultural Focus Groups Interviewing 11. Telephone and Internet Focus Group Interviewing 12. Focus Group Interviews Within the Organization 13. Modifications of Focus Groups 14. Answering Questions About the Quality of Focus Group Research
12,356 citations
01 Jan 1994
7,153 citations
TL;DR: The authors are grateful to the members of their laboratories for their contributions to the reviewed studies and to F. Giardiello and S. Hamilton for photographs of colorectal lesions.
4,959 citations