Family History-taking Research Articles

A Case of Early Rectal Cancer in which Pre-treatment Family History-Taking was Useful for Diagnosing of Lynch Syndrome

A Case of Early Rectal Cancer in which Pre-treatment Family History-Taking was Useful for Diagnosing of Lynch Syndrome

Family history-taking practices and genetic confidence in primary and tertiary care providers for childhood cancer survivors.

There is growing impetus for increased genetic screening in childhood cancer survivors. Family history-taking is a critical first step in determining survivors' suitability. However, the family history-taking practices of providers of pediatric oncology survivorship care and the confidence of these providers to discuss cancer risks to relatives are unknown. Fifty-four providers completed semistructured interviews in total, which included eight tertiary providers representing nine hospitals across two countries (63% male, 63% oncologists, 37% nurses) and 46 primary care providers (PCPs) nominated by a survivor (59% male, 35% regional practice). We used content analysis and descriptive statistics/regression to analyze the data. Few tertiary (38%) or primary (35%) providers regularly collected survivors' family histories, often relying on survivors/parents to initiate discussions. Providers mostly took two-generation pedigrees (63% tertiary and 81% primary). Primary providers focused on adult cancers. Lack of time, alternative priorities, and perceived lack of relevance were common barriers. Half of all tertiary providers felt moderately comfortable discussing genetic cancer risk to children of survivors (88% felt similarly discussing risks to other relatives). Most primary providers lacked confidence: 41% felt confident regarding risks to survivors' children and 48% regarding risks to other relatives. While family history-taking will not identify all survivors suitable for genetics assessment, recommendations for regular history-taking are not being implemented in tertiary or primary care. Additional PCP-targeted genetic education is warranted given that they are well placed to review family histories of pediatric cancer survivors.

Family History-Taking in Paediatrics: It’s Much More Than Just A Checklist

Abstract BACKGROUND: Family history (FH) is a risk factor for many conditions in pediatric practice; interest has increased in supporting systematic FH taking in this area by identifying core conditions for enquiry and developing point of care tools. There is little published about current practice to inform implementing such changes. OBJECTIVES: To inform future FH taking interventions by identifying pediatricians' perceptions, attitudes, beliefs, and current practices. DESIGN/METHODS: The Theoretical Domains Framework (TDF) was used to develop a comprehensive interview scheme. Semi-structured interviews were conducted with community and hospital-based pediatricians Analysis was by the constant comparison method, using a thematic approach. This study was funded by the Canadian Institutes of Health Research. RESULTS: The data revealed FH taking to be a firmly embedded, but complex aspect of pediatric practice. Participants described FH as part of regular, holistic care, extending to social and interpersonal, as well as clinical purposes; in addition to disease risk assessment, FH information helped clarify diagnosis, and select medication; tailor the overall patient management based on family circumstances; and provide psychosocial support for parents. It was also used as a method to build a relationship with parents/carers. FH and social history information were inextricably linked and often appeared to be the same concept in participants’ minds. Participating pediatricians generally expressed confidence in their FH skills and reported tailoring their approach according to experience, after initial training early in their career. While acknowledging some challenges in ensuring accuracy, they were attuned to nuances in their interactions with parents and children which would affect whether, and what, they were told about illness in the family. Most were not concerned about formal evidence, and would not change their practice except for “good reason”. CONCLUSION: The use of the TDF helped ensure a comprehensive approach to FH taking in pediatric practice. The findings suggest that FH taking in this setting is a complex activity, embedded in routine care. Recommendations for systematic enquiry about specific conditions cannot be seen as a simple additional activity to current practice. Efforts to make FH taking more systematic may founder if they fail to take into account pediatricians’ attitudes, perspectives, and practices. Further studies should explore and seek to confirm and expand our observations.

Recommendations and Considerations Related to Preparticipation Screening for Cardiovascular Abnormalities in Competitive Athletes: 2007 Update

Sudden deaths of young competitive athletes are tragic events that continue to have a considerable impact on the lay and medical communities.1–17 These deaths are usually due to a variety of unsuspected cardiovascular diseases and have been reported with increasing frequency in both the United States and Europe.1,5 Such deaths often assume a high public profile because of the youth of the victims and the generally held perception that trained athletes constitute the healthiest segment of society, with the deaths of well-known elite athletes often exaggerating this visibility. These counterintuitive events strike to the core of our sensibilities, periodically galvanizing discussion and action, and in the process raise practical and ethical issues related to detection of the responsible cardiovascular conditions. Preparticipation cardiovascular screening is the systematic practice of medically evaluating large, general populations of athletes before participation in sports for the purpose of identifying (or raising suspicion of) abnormalities that could provoke disease progression or sudden death.13,16 Indeed, identification of the relevant diseases may well prevent some instances of sudden death after temporary or permanent withdrawal from sports or targeted treatment interventions.15,17–21 In addition, the increasing awareness that automated external defibrillators (AEDs) may not always prove successful in the secondary prevention of sudden death for athletes with cardiovascular disease22 underscores the importance of preparticipation screening for the prospective identification of at-risk athletes and the prophylactic prevention of cardiac events during sports by selective disqualification. Although some critics have questioned the effectiveness of cardiovascular screening,23,24 overwhelming support for the principle of this public health initiative exists in both the medical and lay communities.13–16,25 The efficacy of the various athlete screening strategies is not easily resolved in the context of evidence-based investigative medicine. Recently, recommendations of the European Society of Cardiology (ESC)16 and International …

Potentially modifiable influences on cancer family history-taking among primary care physicians in Vermont and Massachusetts

6067 Background. Taking a complete family history is key in identifying individuals at increased risk for cancer. The objectives of this study were to test hypothesized relationships between potentially modifiable factors and family history-taking by primary care physicians. Methods. Primary care physicians (family medicine, internal medicine, gynecology) were surveyed by mail in Vermont, urban and suburban Boston (n=880) using comprehensive rosters from employers or state-wide networks, with a response rate of 70%. Measures of family history-taking quality and factors that may influence this behavior were developed systematically and validated using factor analysis methods. The primary outcome variable was either extent of history-taking or age of cancer diagnoses. These dependent variables were regressed on scales measuring physician perceptions of the advantages and disadvantages of history-taking, confidence in taking cancer family histories, supportive resources, and knowledge of management for patients at high risk for breast and colon cancer; relevant factors controlled in these multiple regressions included type and location of practice. Results. Most physician perception factors hypothesized to influence quality of history taking were found to be significantly associated in the analysis. The strongest predictor of extent of family history-taking was perceived disadvantages of taking a cancer family history (p<.001). Reports of supportive resources ((p<.01); perceived advantages (p=.02); and confidence (p=.02) were also associated with this behavior. Gathering age of cancer diagnoses was significantly associated with perceived advantages, supportive resources and confidence (all p<.0001). Knowledge of high risk management was not associated with quality of family history-taking in either analysis. Conclusions. Potentially modifiable resource and perception factors were significantly associated with quality of family history in a large and diverse sample of primary care physicians. Improving family history quality for identification of high risk individuals among primary care providers will need to address multiple factors. No significant financial relationships to disclose.

Optimizing the detection of hereditary non-polyposis colorectal cancer: An update

Hereditary non-polyposis colorectal cancer (HNPCC) is a dominant inherited disease and accounts for up to 5% of all colorectal cancer (CRC) patients. Despite the optimization of selection criteria and enhancements in molecular techniques for identifying more families with HNPCC, most cases are not recognized. Poor patient recollection of family history and inadequate family history-taking are main causative factors. We propose a new strategy for detecting HNPCC, one in which the pathologist selects patients for microsatellite instability (MSI) testing. Criteria for MSI analysis are: (1) CRC before the age of 50 years, (2) second CRC before 70 years, (3) CRC and HNPCC-associated cancer before 70 years, or (4) adenoma before 40 years. Additionally, patients with a positive MSI test and patients with a positive family history are offered referral for genetic counselling. With this strategy, at least twice the number of HNPCC patients will be identified among a population of CRC patients, and in a cost-effective, efficient and feasible way. The identification of patients with HNPCC is important because intensive surveillance can prevent death from CRC.

A Novel Educational Strategy to Enhance Internal Medicine Residents' Familial Colorectal Cancer Knowledge and Risk Assessment Skills

Internal medicine residents are deficient in their knowledge about familial colorectal cancer (CRC) and thus unable to comply with appropriate screening guidelines. The objective of this study was to evaluate the effectiveness of a mixed educational program that incorporates both a didactic lecture (DL) and interactive, case-based seminar (ICBS), plus distribution of a personal digital assistant (PDA)-based risk assessment tool. Internal medicine resident continuity care teams were randomly assigned to an intervention (9 teams; 43 residents) or control (11 teams; 39 residents) arm. Both groups participated in a DL addressing the current status of CRC screening for average, moderate, and high-risk groups. Intervention teams also participated in a 1-h pre-clinic ICBS that included vignettes about patients at moderate or high risk of CRC because of family history, following which they received the risk assessment tool by e-mail. Knowledge and clinical risk assessment skills were evaluated using pre/posttests, patient exit interviews, and chart audits. Baseline test scores were similar for both groups (intervention, 51%vs control, 54%; p= 0.35). Immediate post-ICBS scores (intervention group only) significantly increased to 82% (p < 0.001). Six-month post-ICBS scores declined for the intervention group but remained significantly higher than 6-month control group scores (63%vs 56%, p= 0.002), which were unchanged from baseline. No significant differences were observed with respect to family history-taking or documentation skills. A mixed educational program that incorporates both a DL and ICBS is more effective that the DL alone for increasing knowledge about familial CRC risk but may have limited influence on clinical risk assessment skills.

Familial papillary thyroid carcinoma: genetics, criteria for diagnosis, clinical features, and surgical treatment.

Hereditable predisposition to papillary thyroid carcinoma (PTC) and multinodular goiter (MNG) without evidence of an association with other malignancies as a distinct entity was recognized only recently. A meta-review of the literature on familial PTC (FPTC) was undertaken, and characteristics of families with frequent occurrence of PTC or MNG (or both) were summarized. A database on thyroid cancer patients maintained in our institution was searched for potential FPTC families. Clinical examinations were performed in 6 of 12 Hannover kindreds identified, and blood samples of all family members were collected for genetic analyses. Clinical presentations and histopathologic features of the FPTC cases were compiled. Based on the FPTC meta-review and own experience, predictive criteria to identify families at risk were developed: Exclusion criteria were previous radiation exposure and coincidence with neoplasia syndromes. Primary criteria for susceptibility to FPTC are (1) PTC in two or more first-degree relatives and (2) MNG in at least three first- or second-degree relatives of a PTC patient. Secondary criteria are diagnosis in a patient younger than 33 years, multifocal or bilateral PTC, organ-exceeding tumor growth (T4), metastasis (N1, M1), and familial accumulation of adolescent-onset thyroid disease. A hereditary predisposition to PTC is considered if both primary criteria or one primary criterion plus three secondary criteria are present. Family history-taking is recommended for all PTC patients to identify FPTC kindreds at risk. Blood relatives of FPTC index patients who harbor MNG should undergo thorough and regular clinical screening. Suspicious lesions should prompt early surgical intervention.

Family history of colorectal cancer

A family history of colorectal cancer is an important risk factor for the disease. A positive family history means that endoscopic screening should be recommended and a strongly positive family history raises the possibility of a dominantly inherited syndrome. This study was performed to find how often and how accurately a family history of colorectal cancer was recorded in the charts of patients on a colorectal surgical ward. A second aim was to see whether family history-taking could be improved. The charts of 100 inpatients on a colorectal surgical floor were reviewed for the presence of a family history of colorectal cancer. Any chart documentation was compared with a family history obtained by a detailed interview. The chart review was repeated four years later. In the initial review, we found that a family history was recorded in 45 of 100 charts. It was accurate for colorectal cancer in 36 charts. Four years later, the rate of family history recording increased to 61 of 96, whereas the accuracy rate (45/61) did not change. Responses to a simple screening question asking about a family history of colorectal cancer were accurate in 77 percent of patients. Not all colorectal surgical patients have their family histories recorded, and even when it is recorded, it is not always correct. Despite improvement during a four-year period, there is still room for further improvement in the recording of a family history of colorectal cancer. Physicians should make an effort to ask this question and document the response in the hospital chart.

Family history-taking in community family practice: Implications for genetic screening

PurposeTo identify characteristics of physicians, patients, and visits associated with obtaining family history information in community family practice. MethodsResearch nurses directly observed 4454 patient visits to 138 family physicians and reviewed office medical records. ResultsFamily history was discussed during 51% of visits by new patients and 22% of visits by established patients. Physicians’ rates of family history-taking varied from 0% to 81% of visits. Family history was more often discussed at well care rather than illness visits. The average duration of family history discussions was <2.5 minutes. ConclusionsThese data can form the basis for realistic interventions to increase the use of family history in primary care.

The role of the family history in preventive medicine: an introduction for medical librarians.

Health professionals are collecting and charting data about the family history of their patients in order to determine if a predisposition to heart, stroke, cancer and other debilitating conditions can be detected or alleviated through patient education and preventive medicine. Family history-taking for the purposes of preventive medicine is introduced, along with a brief history of the field. The pedigree chart and the genogram are described and their use by health personnel is discussed. A brief search strategy on MEDLINE and a selected bibliography are presented to aid the health sciences librarian to find information on the family history, genograms or pedigree charts.