GPs' views on their role in cancer genetics services and current practice.
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.
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TL;DR: Patient-reported family cancer histories for first-degree relatives are accurate and valuable for breast and colon cancer risk assessments, and negative family history reports for ovarian and endometrial cancers are less useful, although the prevalence of these malignancies within families is low.
Abstract: Context: A family history of certain cancers is associated with an increased risk of developing cancer. Both cancer screening and genetic services referral decisions are often based on self-reported pedigree information. Objective: To determine the accuracy of self-reported family cancer history information. Data Sources English-language articles were retrieved by searching MEDLINE (1966-June 2004) using Medical Subject Headings family, genetic predisposition to disease, medical history taking, neoplasm, and reproducibility of results. Additional articles were identified through bibliography searches. Study Selection: Original studies in which investigators validated self-reported family history by reviewing the identified relatives’ medical records, death certificate, or cancer registry information were included, as well as studies that evaluated breast, colon, ovarian, endometrial, and prostate cancers. Data Extraction: Two of the 3 investigators independently reviewed and abstracted data for estimating the likelihood ratios (LRs) of self-reported family cancer history information. Only data from studies that evaluated both positive and negative family cancer histories were included within the analyses. A total of 14 studies met the search criteria and were included in the review. Data Synthesis: For patients without a personal history of cancer, the positive and negative LRs of a family history of the following cancers in a first-degree relative were 23.0 (95% confidence interval [CI], 6.4-81.0) and 0.25 (95% CI, 0.10-0.63) for colon cancer; 8.9 (95% CI, 5.4-15.0) and 0.20 (95% CI, 0.08-0.49) for breast cancer; 14.0 (95% CI, 2.2-83.4) and 0.68 (95% CI, 0.31-1.52) for endometrial cancer; 34.0 (95% CI, 5.7-202.0) and 0.51 (95% CI, 0.13-2.10) for ovarian cancer; and 12.3 (95% CI, 6.5-24.0) and 0.32 (95% CI, 0.18-0.55) for prostate cancer, respectively. Positive predictive values tended to be better in articles concerning first-degree relatives compared with second-degree relatives. Conclusions: Patient-reported family cancer histories for first-degree relatives are accurate and valuable for breast and colon cancer risk assessments. Negative family history reports for ovarian and endometrial cancers are less useful, although the prevalence of these malignancies within families is low.
323 citations
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: People with a family history of a common chronic disease develop a personal sense of vulnerability that is informed by the salience of their family history and interpreted within their personal models of disease causation and inheritance.
Abstract: PURPOSE Although the family history is increasingly used for genetic risk assessment of common chronic diseases in primary care, evidence suggests that lay understanding about inheritance may confl ict with medical models. This study systematically reviewed and synthesized the qualitative literature exploring understanding about familial risk held by persons with a family history of cancer, coronary artery disease, and diabetes mellitus. METHODS Twenty-two qualitative articles were found after a comprehensive literature search and were critically appraised; 11 were included. A meta-ethnographic approach was used to translate the studies across each other, synthesize the translation, and express the synthesis. RESULTS A dynamic process emerged by which a personal sense of vulnerability included some features that mirror the medical factors used to assess risk, such as the number of affected relatives. Other features are more personal, such as experience of a relative’s disease, sudden or premature death, perceived patterns of illness relating to gender or age at death, and comparisons between a person and an affected relative. The developing vulnerability is interpreted using personal mental models, including models of disease causation, inheritance, and fatalism. A person’s sense of vulnerability affects how that person copes with, and attempts to control, any perceived familial risk. CONCLUSIONS Persons with a family history of a common chronic disease develop a personal sense of vulnerability that is informed by the salience of their family history and interpreted within their personal models of disease causation and inheritance. Features that give meaning to familial risk may be perceived differently by patients and professionals. This review identifi es key areas for health professionals to explore with patients that may improve the effectiveness of communication about disease risk and management.
286 citations
TL;DR: For genomics to have an effect on clinical practice that is comparable to its impact on research will require advances in the genomic literacy of health-care providers.
Abstract: To biomedical researchers, this is the 'genome era'. Advances in genetics and genomics such as the sequence of the human genome, the human haplotype map, open access databases, cheaper genotyping and chemical genomics have already transformed basic and translational biomedical research. However, for most clinicians, the genome era has not yet arrived. For genomics to have an effect on clinical practice that is comparable to its impact on research will require advances in the genomic literacy of health-care providers. Here we describe the knowledge, skills and attitudes that genomic medicine will require, and approaches to integrate them into the health-care community.
285 citations
TL;DR: It is suggested that this computer program has the potential to stand alone as an educational intervention for low-risk women but should be used as a supplement to genetic counseling for those at high risk.
Abstract: ContextAs the availability of and demand for genetic testing for hereditary
cancers increases in primary care and other clinical settings, alternative
or adjunct educational methods to traditional genetic counseling will be needed.ObjectiveTo compare the effectiveness of a computer-based decision aid with standard
genetic counseling for educating women about BRCA1 and BRCA2 genetic testing.DesignRandomized controlled trial conducted from May 2000 to September 2002.Setting and ParticipantsOutpatient clinics offering cancer genetic counseling at 6 US medical
centers enrolled 211 women with personal or family histories of breast cancer.InterventionsStandard one-on-one genetic counseling (n = 105) or education by a computer
program followed by genetic counseling (n = 106).Main Outcome MeasuresParticipants' knowledge, risk perception, intention to undergo genetic
testing, decisional conflict, satisfaction with decision, anxiety, and satisfaction
with the intervention. Counselor group measures were administered at baseline
and after counseling. Computer group measures were administered at baseline,
after computer use, and after counseling. Testing decisions were assessed
at 1 and 6 months. Outcomes were analyzed by high vs low risk of carrying
a BRCA1 or BRCA2 mutation.ResultsBoth groups had comparable demographics, prior computer experience,
medical literacy, and baseline knowledge of breast cancer and genetic testing,
and both counseling and computer use were rated highly. Knowledge scores increased
in both groups (P<.001) regardless of risk status,
and change in knowledge was greater in the computer group compared with the
counselor group (P = .03) among women at low risk
of carrying a mutation. Perception of absolute risk of breast cancer decreased
significantly after either intervention among all participants. Intention
to undergo testing decreased significantly after either intervention among
low-risk but not high-risk women. The counselor group had lower mean scores
on a decisional conflict scale (P = .04) and, in
low-risk women, higher mean scores on a satisfaction-with-decision scale (P = .001). Mean state anxiety scores were reduced by counseling
but were within normal ranges for both groups at baseline and after either
intervention, regardless of risk status.ConclusionsAn interactive computer program was more effective than standard genetic
counseling for increasing knowledge of breast cancer and genetic testing among
women at low risk of carrying a BRCA1 or BRCA2 mutation. However, genetic counseling was more effective than
the computer at reducing women's anxiety and facilitating more accurate risk
perceptions. These results suggest that this computer program has the potential
to stand alone as an educational intervention for low-risk women but should
be used as a supplement to genetic counseling for those at high risk.
272 citations
References
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TL;DR: No clear consensus emerged from an examination on the 11 studies on how well responses to written case simulations perform as proxy measures of actual behavior, suggesting more work is needed before assuming that written case simulation measure actual behavior.
253 citations
Journal Article•
TL;DR: It is suggested that non-response to the postal survey was associated with lack of activity in the study area and a social desirability bias may have been introduced.
Abstract: BACKGROUND. High response rates to surveys help to maintain the representativeness of the sample. AIM. In the course of a wider investigation into counselling services within general practice it was decided to assess the feasibility of increasing the response rate by telephone follow up of non-respondents to a postal survey. METHOD. A postal survey was undertaken of a random sample of 1732 general practitioners followed by telephone administration of the questionnaire to non-respondents. The identical questionnaire was administered by telephone to a separate random sample of 206 general practitioners. RESULTS. Of 1732 general practitioners first approached by mail, 1683 were still in post of whom 881 (52%) completed the postal questionnaire and a further 494 (29%) the telephone interview. Of 206 general practitioners first contacted by telephone, 197 were still in post of whom 167 (85%) completed interviews. Compared with doctors first approached by mail, those first approached by telephone were significantly more likely to report having a partner with a special interest in psychiatry (P < 0.01); and a general practitioner, practice nurse or health visitor who worked as a counsellor (P < 0.01 in each case). A comparison of doctors first approached by telephone with those who completed telephone interviews after failing to respond to the postal questionnaire showed that postal non-respondents were significantly less likely to report having a general practitioner, practice nurse, health visitor or community psychiatric nurse who worked as a counsellor (P < 0.01 in each case). CONCLUSION. These findings suggest that non-response to the postal survey was associated with lack of activity in the study area. Telephone administration of questionnaires to postal non-respondents increased response rates to above 80% but, as telephone administration enhanced the reporting of counsellors, a social desirability bias may have been introduced.
181 citations
TL;DR: Predictors of participation in a risk counseling trial for first‐degree relatives of breast cancer patients are examined to examine what factors influence women to participate in trials designed for women at high risk for breast cancer.
Abstract: BACKGROUND
Little is known about what factors influence women to participate in trials designed for women at high risk for breast cancer. Yet the recruitment phase is of utmost importance in determining whether the trial can achieve its goals. The purpose of this study was to examine predictors of participation in a risk counseling trial for first-degree relatives of breast cancer patients.
METHODS
Subjects were identified by their relatives who had received a diagnosis of breast cancer at one of six institutions. Letters of introduction were sent to potentially eligible, unaffected relatives. They were informed about the risk counseling study and given the opportunity to decline. Letters were sent to 1392 first-degree relatives; of these, 1149 women were contacted for an interview and 14% refused. Of the 987 respondents, 47% accepted and 53% declined to participate. Bivariate and multivariate statistics were used to examine predictors of participation.
RESULTS
In the total sample, there were five significant multivariable predictors of participation: level of education, recent clinical breast examination (CBE), objective and perceived breast cancer risk, and any current use of alcohol. Participation was moderated by time since the relative's diagnosis. There was a statistically significant relationship to education such that women with a higher level of education were significantly more likely to participate if they were approached within 2 months of their relative's diagnosis of breast cancer.
CONCLUSIONS
Like many other kinds of trials, participants in this risk counseling trial were significantly more likely to have more than a high school education and more likely to be nonsmokers than the nonparticipants. They also were significantly more likely to drink alcohol (dichotomous measure), have had a recent CBE, and have higher subjective and objective breast cancer risks. Different types of recruitment strategies may be needed depending on the characteristics of the people being recruited and the timing of the invitation. Cancer 1996;77:2348-55.
78 citations
TL;DR: To the extent that attitudes are reflected in practice, genetic counseling may be more directive when provided by primary care Physicians than by genetics professionals, unless primary care physicians' growing involvement in genetics changes their attitudes.
Abstract: OBJECTIVE To determine, by response to a scenario, how willing primary care physicians would be to counsel a couple about prenatal diagnosis of cystic fibrosis and how directive they would be about whether the couple should undergo prenatal diagnosis and whether the couple should terminate the pregnancy if the fetus is affected. DESIGN Survey of a random sample of primary care physicians, psychiatrists, and genetics professionals in 10 geographically representative states. RESPONDENTS Sixty-five percent (N = 1140) of 1759 obstetricians, pediatricians, internists, family practitioners, and psychiatrists, and 79% (N = 280) of medical geneticists and genetic counselors. OUTCOMES AND RESULTS Respondents were evenly divided on whether they would counsel about prenatal diagnosis or refer to a genetic counselor (49.4% and 50.6%, respectively). Those who indicated that they would counsel were likely to have greater knowledge about genetics, greater confidence in communicating about genetics, and higher tolerance for ambiguity and were more likely to have completed their medical training since 1971 and to practice in a rural area. Forty-four percent of physicians would give an opinion about prenatal diagnosis. Men would be more likely to give an opinion than women (P < .005). Only 9.6% of respondents would give an opinion regarding abortion. These respondents were more likely to come from specialties with less exposure to genetics and to value attendance at religious services. Primary care physicians were more likely to give their opinions about prenatal diagnosis and abortion than genetics professionals. CONCLUSIONS To the extent that attitudes are reflected in practice, genetic counseling may be more directive when provided by primary care physicians than by genetics professionals, unless primary care physicians' growing involvement in genetics changes their attitudes.
55 citations
TL;DR: Since the new contract there has been a significant increase in general medical services work, mainly due to more patients being seen in clinics, with no reduction in the time spent per patient.
Abstract: OBJECTIVE--To assess changes in general practitioners' workload associated with the new contract introduced in April 1990. DESIGN--Weekly workload diary completed during four weeks in February-March 1990 and during the same period in 1991. SETTING--Sheffield, United Kingdom. SUBJECTS--All 300 general practitioners on Sheffield Family Health Services Authority list as principals in 1990 and 1991. MAIN OUTCOME MEASURES--Mean number of hours worked per week, number of patients seen each week, and mean time spent per patient. RESULTS--181 (60%) general practitioners responded in 1990 and 163 (54%) in 1991. Of these, 18 (10%) were not working in 1990 and 14 (7%) in 1991. General medical service work increased during a "normal working week" from a mean of 38.6 hours a week in 1990 to 40.6 hours in 1991, and non-general medical service work decreased from 5.4 hours a week to 4.5 hours. Hours spent on call were similar before and after the contract. For the 99 general practitioners who responded in both years, time spent on general medical service duties increased significantly (40.5 h in 1990 v 42.5 h [corrected] in 1991; p = 0.033), mainly due to more time being spent in clinics. Significantly more patients were being seen in clinics (9 v 14; p = 0.001); the average time spent per patient remained at about 8 1/2 minutes during surgeries and 16 minutes for a home visit, and rose from 13 to 14 minutes for patients seen in clinics. The time spent on practice administration fell but not significantly. CONCLUSION--Since the new contract there has been a significant increase in general medical services work, mainly due to more patients being seen in clinics, with no reduction in the time spent per patient.
55 citations