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.

https://jamanetwork.com/journals/jama/articlepdf/199491/JRC40001.pdf

Does This Patient Have a Family History of Cancer?: An Evidence-Based Analysis of the Accuracy of Family Cancer History

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.

Reconsidering the family history in primary care.

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.

https://www.annfammed.org/content/annalsfm/2/6/583.full.pdf

Lay Understanding of Familial Risk of Common Chronic Diseases: A Systematic Review and Synthesis of Qualitative Research

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.

Educating health-care professionals about genetics and genomics.

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.

https://jamanetwork.com/journals/jama/articlepdf/199163/JOC32608.pdf

Effect of a Computer-Based Decision Aid on Knowledge, Perceptions, and Intentions About Genetic Testing for Breast Cancer Susceptibility: A Randomized Controlled Trial

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.

/pdf/gps-views-on-their-role-in-cancer-genetics-services-and-5733cib6mx.pdf

Hafrun Gudmundsdottir

Papers

GPs' views on their role in cancer genetics services and current practice.