Comparison of compliance for colorectal cancer screening and surveillance by colonoscopy based on risk

PurposeTo compare colonoscopy screening/surveillance rates by level of risk for colorectal cancer based on age, personal history of adenomatous polyps or colorectal cancer, or family history of colorectal cancer.MethodsParticipants were aged 30–90 years, were seen within 5 years at Intermountain Healthcare, and had family history in the Utah Population Database. Colonoscopy rates were measured for those with/without risk factors.ResultsAmong those aged 60–69 years, 48.4% had colonoscopy in the last 10 years, with rates declining after age 70 years. Percentages of those having had a colonoscopy in the last 10 years generally increased by risk level from 38.5% in those with a familial relative risk <1.0 to 47.6% in those with a familial relative risk >3.0. Compared with those with no family history, the odds ratio for being screened according to guidelines was higher for those with one first-degree relative diagnosed with colorectal cancer ≥ 60 years or two affected second-degree relatives (1.54, 95% confidence interval: 1.46–1.61) than those with one affected first-degree relative diagnosed <60 years or ≥2 affected first-degree relatives (1.25, 95% confidence interval: 1.14–1.37).ConclusionsCompliance with colonoscopy guidelines was higher for those with familial risk but did not correspond with the degree of risk.     

Personal attributions for melanoma risk in melanoma-affected patients and family members

Personal attributions for cancer risk involve factors that individuals believe contribute to their risk for developing cancer. Understanding personal risk attributions for melanoma may dictate gene-environment melanoma risk communication strategies. We examined attributions for melanoma risk in a population-based sample of melanoma survivors, first degree family members, and family members who are also parents (N = 939). We conducted qualitative examination of open-ended risk attributions and logistic regression examining predictors (demographics, family member type, perceived risk) of the attributions reported (ultraviolet radiation [UVR] exposure, heredity/genetics, phenotype, personal melanoma history, miscellaneous). We found a predominance of risk attributions to UVR and heredity/genetics (80 and 45% of the sample, respectively). Those reporting higher education levels were more likely to endorse attributions to heredity/genetics, as well as to phenotype, than those of lower education levels. First-degree relatives and parent family members were more likely to endorse heredity/genetic attributions than melanoma survivors; melanoma survivors were more likely to endorse personal history of melanoma attributions compared to first-degree relatives and parent family members. These findings inform the development of risk communication interventions for melanoma families.     

Efficacy of a touchscreen computer based family cancer history questionnaire and subsequent cancer risk assessment

OBJECTIVE—A computer based touchscreen family cancer history questionnaire was developed and implemented to facilitate the provision of cancer risk assessments for the ambulatory and outpatient populations of a free standing cancer hospital.
METHODS—A questionnaire consisting of a series of branched point decision making screens was developed which enables the participant to enter demographic data, personal cancer history, and cancer histories for first and second degree relatives. A freestanding touchscreen computer kiosk system was used to place the questionnaire in public areas of the cancer hospital and clinic. Genetic professionals analysed the data received, using published criteria, and provided a basic cancer risk assessment and surveillance recommendations within 10 business days. A survey was completed by a small random group of users (n=59) three to six months after receipt of their risk assessment.
RESULTS—After 11 months, 1440 people had entered information and received a written communication. Only 2% of completed questionnaires contained insufficient information to provide a basic risk assessment. Of the small group of participants surveyed, almost all (95%) felt "very comfortable" using the system, 93% remembered receiving the risk assessment letter when queried three to six months later, 42% felt their perceptions about cancer risk had changed, and 20% had made changes in their or their family's cancer surveillance practices.
CONCLUSION—The touchscreen computer family history questionnaire allows easy collection of family history information, provision of risk assessments to a broad population, and promotes increased awareness of familial risk and appropriate surveillance.


Keywords: genetic counselling; risk assessment; computers; medical informatics     

Increased sister chromatid exchange frequency in young women with breast cancer and in their first-degree relatives

The well-known increased risk of breast cancer (BC) in first-degree relatives of patients with BC has been related to shared genetic factors including defective DNA repair, with loss of genomic integrity. On the other hand, it can be hypothesized that early-onset breast cancer is also associated with overburden of heritable factors leading to increased DNA injury. In this respect, we analyzed sister chromatid exchange frequency (SCE) in 20 women with breast cancer (all < or =40 years old), in their first-degree female relatives, and in 20 age-matched healthy females without a personal or family history of cancer. SCE was significantly increased (P < 0.05) in patients (7.17 +/- 1.81 per metaphase) and in their first-degree relatives (6.44 +/- 0.98), compared with controls (5.85 +/- 0.72). There was no difference in SCE frequency between patients and their first-degree relatives. We suggest that the increased SCE in patients reflects a genomic instability that may be operative in carcinogenesis. Further, genomic instability is shared also by first-degree relatives, although none of them had a history of breast cancer at the time of the study.     

Self-rated breast cancer risk among women reporting a first-degree family history of breast cancer on office screening questionnaires in routine medical care: the role of physician-delivered risk feedback.

PURPOSE: We investigated whether risk-related feedback delivered by one's primary care physician is associated with self-ratings of risk among women found to have a first-degree family history of breast cancer on office screening questionnaires. METHODS: Design: Mailed survey of women registered with the Cancer Genetics Network having a first-degree family history of breast cancer. Eligibility: Completion of primary care-based family history screening within the past year. Independent variable: presence of physician feedback about breast cancer risk. Dependent variable: self-rated breast cancer risk. Modifying variable: trust in one's doctor. RESULTS: Three hundred one women met eligibility criteria (73% minimum response rate); feedback was associated with rating one's risk to be "high" in both crude and multivariate analysis. (ORadj = 2.38; 95% CI = 1.30, 4.38). Higher levels of trust in the physician were associated in a dose-dependent fashion with the strength of association between feedback and self-rating one's risk to be high. CONCLUSIONS: Physician feedback following the identification of a first-degree family history of breast cancer appears to influence whether or not women categorize themselves to be at high risk and trust is an important modifier of this association.     

Expanding the definition of a positive family history for early-onset coronary heart disease.

PURPOSE: Assessing familial risk for early-onset coronary heart disease (CHD) is typically limited to first-degree relatives with early-onset CHD. To evaluate the impact of additional family history, we examined the associations between various family history definitions and early-onset CHD. METHODS: By using the national HealthStyles 2003 survey data, we assessed associations between self-reported family history and personal history of early-onset CHD (diagnosed at or before age 60 years), adjusting for demographics, hypercholesterolemia, hypertension, and obesity. RESULTS: Of 4,035 respondents, 60% were female and 72% were white, with a mean age of 48.8 years; 4.4% had early-onset CHD. In addition to having at least one first-degree relative with early-onset CHD, other significant associations included having at least one first-degree relative with late-onset CHD, at least one second-degree relative with early-onset CHD, and two or more affected second-degree relatives regardless of age of onset of CHD. Early-onset stroke in at least one first-degree relative and, in women, having at least one first-degree relative with diabetes were also significantly associated with early-onset CHD. CONCLUSIONS: Family history beyond early-onset CHD in first-degree relatives is significantly associated with prevalent CHD diagnosed at or before age 60 years.     

Family communication about positive BRCA1 and BRCA2 genetic test results.

PURPOSE: The identification of a BRCA1 or BRCA2 genetic mutation can provide important health information to individuals who receive this result, but it can also provide crucial cancer risk information to family members. Most of the research on communication of genetic test results has focused on first degree relatives. The purpose of this retrospective study was to examine the process of communicating a positive BRCA1 or BRCA2 genetic test result to male and female first, second, and third degree relatives. METHODS: Participants were 38 female mutation carriers who responded to a written survey assessing the number and relationship of relatives informed, methods used to inform relatives, topics discussed, and motivations and barriers for communication. RESULTS: Overall, 59% (470/803) of first, second, and third degree relatives were informed. The proportion of informed parents, siblings, and offspring was nearly twice that of more distant relatives including nieces, nephews, aunts, uncles, grandchildren, and cousins (88% versus 45%; P = 0.02). The method of communication differed by the gender of the relative, as did some of the topics discussed. The most important reasons for discussing the genetic test results were (1) to inform the relatives of their risk, (2) to suggest that they be tested, and (3) to fulfill a perceived duty to inform. The major barrier to communication was little contact and/or emotionally distant relationships. CONCLUSION: Female mutation carriers act on a perceived duty to inform close relatives of their positive test result; however, there is a need for genetic counseling strategies that address communication with more distant relatives.     

Communication with close and distant relatives in the context of genetic testing for hereditary breast and ovarian cancer in cancer patients

The psychological aspects of genetic testing for hereditary breast and ovarian cancer (HBOC) in cancer patients (diagnostic genetic testing) have so far received less attention than predictive genetic testing in unaffected persons. Our study is aimed at gaining insight into the psychological aspects of diagnostic genetic testing and at formulating practical recommendations for counseling. Cancer patients often play a key role in the communication of information to relatives because they were the first individuals to be tested in the family. The present article focuses on the communication to close and distant relatives about the hereditary cancer, the genetic test and its result. Participants previously diagnosed with breast and/or ovarian cancer, with a family history of these cancers and who requested DNA-testing, were eligible for the study. Of the 83 eligible patients who could be contacted, 63 participated (response rate = 76%). Twenty-six participants were members of a family where a BRCA1 or BRCA2 mutation was detected. The DNA-analysis in the family of 37 participants had not revealed any mutation. Data were collected by semi-structured interviews and psychological tests and questionnaires. The dissemination of information was largely focused on first-degree relatives. Communication to distant relatives about the genetic test and its result was problematic. Other than the genetic test result and age as "objective" predictors of informing distant relatives, little and/or superficial contact seemed to be the major subjective barrier to informing distant relatives. Furthermore, the knowledge about HBOC of these messengers reveals several shortcomings. Communication within the family should receive special attention during counseling.     

Impact of patient age on family cancer history.

PURPOSE: Younger individuals with relatives diagnosed with cancer are at greater risk for developing certain cancer when compared with older individuals with affected relatives. The purpose of this study was to calculate the age-specific proportion of individuals reporting positive family histories for colon, breast, and prostate cancer. METHODS: Family cancer history information was reviewed on 32,374 adults interviewed for the 2000 National Health Interview Survey. Family histories were categorized as high risk, with a relative diagnosed before 50 years of age or with multiple affected relatives, or moderate risk, with a single relative diagnosed at age 50 years or older. RESULTS: For individuals with a family history of colorectal cancer, the odds of having a high-risk pedigree decreased by 1% (95% confidence interval 0%-2%) for every year of age increase. For women reporting a family breast cancer history, the odds of reporting a pedigree with high-risk features decreased by 3% (95% confidence interval 2%-4%) for each year of age increase. Age was not associated with reporting a high-risk pedigree for prostate cancer. CONCLUSION: For colorectal and breast cancers, younger individuals reporting a family history of these cancers were more likely to report a pedigree with high-risk features than older individuals.     

Breast and colorectal cancer risk communication approaches with low-income African-American and Hispanic women: implications for healthcare providers

BACKGROUND: Information on breast and colorectal cancer risk factors is widely available to women and the physicians who provide their healthcare; however, many women are unable to identify the major risk factors, continue to misperceive their personal risk of developing these cancers, and do not engage in routine early detection. METHODS: Qualitative methods were used to investigate breast and colorectal cancer risk knowledge, perceptions, behaviors, and risk communication formats with low-income African-American and Hispanic study participants in Harlem, NY, aged 40-60 years. RESULTS: Focus group results indicated strong participant interest in strategies necessary to understand and reduce the risk of developing breast and colorectal cancers. Preferred risk communication tools presented information about family history and personal risk in graphic and quantitative formats. CONCLUSIONS: Healthcare professionals who serve low-income African-American and Hispanic female populations should deliver information to them about the personal risk of developing targeted cancers and ways to reduce this risk in formats that are meaningful and effectively address the special needs of these populations.     

Atypia in the assessment of breast cancer risk: implications for management

Proliferative disease accounts for as much as one-third of all biopsies for benign disease and 5-10% of proliferative lesions show atypia ductal or lobular hyperplasia. Nearly 40% of women with a family history of breast cancer and atypical hyperplasia subsequently develop breast cancer. A quantitative model developed by Gail and colleagues estimates the probability of developing breast cancer over time. Risk factors in the model include current age, ages at menarche and first live birth, number of previous biopsies, the presence of cellular atypia, and the number of first-degree relatives with breast cancer. Atypical hyperplasia approximately doubles the risk of developing invasive breast cancer within any quantitative risk profile. Ductal lavage provides a minimally invasive method of collecting breast epithelial cells. The procedure opens the possibility of repeatable tracking of breast cytology over time, but its role as a risk assessment tool remains to be fully defined.     

Population-based study of the prevalence of family history of cancer: implications for cancer screening and prevention.

PURPOSE: Family history assessment is gaining importance as a potential public health tool to help determine susceptibility to common cancers. Population-based data on the prevalence of having a family history of common cancers are scant. METHODS: We queried survey questions from the National Health Interview Survey, an annual nationwide survey of approximately 36,000 households in the United States, to determine the prevalence of persons reporting one or more first-degree relatives with breast, colorectal, lung, prostate, or ovarian cancer. RESULTS: Breast cancer was the most common condition noted for family members (7.74% of respondents), followed by lung cancer (7.10%), colorectal cancer (4.96%), prostate cancer (4.68%), and ovarian cancer (1.79%). A family history of cancer was more commonly reported by older persons, whites, women, and high-income groups. CONCLUSION: A substantial proportion of persons in the United States report having a close family member with cancer, and thus may be eligible for earlier or more aggressive cancer screening services.     

Family history and risk of breast cancer.

The risk of breast cancer in first degree relatives of patients with breast cancer can be derived from family history and is dependent upon the age at diagnosis in the index patient. For the relatives of index patients older than 55, the relative risk is 1.57, if less than 55 the relative risk is 2.29, and 3.85 if less than 45 (95% confidence limits 0.83 to 2.68, 1.18 to 4.01, and 1.67 to 3.85, respectively). First degree relatives of patients with bilateral breast cancer have a 6.43-fold increase in risk (95% confidence limits 1.32 to 18.77). The genetic contribution to overall lifetime liability to breast cancer in the relatives declines rapidly with increasing age of onset of breast cancer in the index patient from 37% at 20 years to 8% by 45 years. This information can be used in clinical practice for counselling and the establishment of screening programmes.     

Genetic counseling for women with an intermediate family history of breast cancer

Women with a family history of breast cancer often over-estimate their personal risk for cancer and may view themselves as candidates for genetic testing even when the likelihood of an informative test result is low. We report here on genetic counseling of women with an intermediate family history of breast cancer, defined as women who have one or more biological relatives with breast cancer but whose pedigree suggests a low likelihood of autosomal dominant transmission. A genetic counseling protocol based on traditional genetic counseling strategies was developed with additional components added to address the needs of women with moderately increased breast cancer risk. These additional components included information about non-genetic risk factors, comparisons of high and moderate risk pedigrees, and evaluation of personal risk based on both genetic and nongenetic risk factors. Most participants liked the genetic counseling and found it useful. At baseline, participants over-estimated both their personal risk of breast cancer and that of the average woman. After counseling, estimates of personal and average risk of breast cancer were lower, although both remained higher than actual risk. Most participants reported that they felt less worried about breast cancer after receiving their personal-risk estimate. At baseline, most women judged themselves to be candidates for genetic testing and expressed interest in testing. The number who considered themselves candidates for testing was reduced after counseling (60% versus 82%) but still constituted a majority. Similarly, interest in testing was partially reduced by counseling (60% versus 91%). We conclude that genetic counseling can help women with an intermediate family history of breast cancer to develop more accurate views of their risk, reduce their breast cancer worry, and aid some of them in developing a more realistic view of genetic testing.     

Contribution of BRCA1 and BRCA2 germ-line mutations to the incidence of breast cancer in young women: results from a prospective population-based study in France

The prevalence of BRCA1/2 germ-line mutations was assessed in a prospective population-based series of early-onset breast cancer (BC) patients in France, and the usefulness of a clinical assessment of hereditary BC risk, based on multiple criteria including pedigree structure, was evaluated. Through the Rhone region BC registry, 232 women diagnosed with BC before 46 years of age were included. They were tested for BRCA1/2 mutations an average of 10 months after diagnosis. All the women were classified according to their family history of cancer: high risk of hereditary breast cancer (HBC), low risk of HBC, isolated BC, and unknown HBC risk. Deleterious mutations were observed in 21 women (9.1%): 15 (6.5%) BRCA1 and 6 (2.6%) BRCA2. Mutations were more prevalent in women who developed BC before age 41 than in women who developed BC between ages 41 and 45 (12.8% versus 5.2%, respectively, P = 0.04). A high prevalence of BRCA1/2 mutations was found among women in the high-risk category with particular family features (i.e., small family size, predominantly male pedigree, specific cancers; 23.5%) and among women with isolated BC before age 41 and with five or fewer close adult female relatives (16.6%). According to the 10% probability level recommended by the American Society of Clinical Oncology guidelines for genetic testing of cancer, BRCA1/2 mutation screening should be considered for all women diagnosed before age 41, except for those with isolated BC in a large pedigree including multiple unaffected female relatives. The clinical assessment of HBC risk that we have developed should help in the decision to perform genetic testing.     

Perception of risk, anxiety, and health behaviors in women at high risk for breast cancer

Perception of risk, anxiety, psychological distress, and early detection behavior were investigated in 23 women with a family history of breast cancer who attended genetic counseling and 21 women without a family history of breast cancer. In addition to a breast cancer-specific questionnaire, the Symptom Checklist 90-Revised and the State-Trait Anxiety Inventory were used. Thirty-nine percent of the women with a family history of breast cancer correctly identified and 48% overestimated their own lifetime risk. Risk perception was independent of genetic counseling. Levels of general psychological morbidity were similar between women with a family history of breast cancer and controls. For controls, early detection behavior was related to lifetime risk estimate and was, in general, independent of level of anxiety. Despite genetic counseling, many women continued to perceive their own lifetime risk of breast cancer inaccurately. They might benefit from additional counseling on risk assessment.     

A focus group study on breast cancer risk presentation: one format does not fit all

Identifying a strategy that would optimize both the communication and understanding of the individual breast cancer risk remains a considerable challenge. This study explored the preferences of women with a family history of breast cancer about six presentation formats of individual breast cancer risk, as calculated from a risk prediction model. Thirty-four unaffected women attending genetic counseling because of a family history of breast cancer participated in six focus groups conducted in Québec City (2), Montréal (2) and Toronto (2), Canada. Six risk formats were presented for a fictitious case involving a 35-year-old woman (1—numerical: cumulative risk probabilities by age until 80 years; 2—risk curves: probabilities expressed in a risk curve that also provided a risk curve for a woman with no family history in first-degree relatives; 3—relative risk of breast cancer by age 80 years; 4 and 5—absolute risk of breast cancer and absolute chance of not developing breast cancer in the next 20 years; 6—qualitative: color-coded figure). Participants were asked to indicate their appreciation of each format. A group discussion followed during which participants commented on each format. The most and least appreciated formats were risk curves and relative risk, respectively. Overall, participants advocated the use of formats that combine quantitative, qualitative and visual features. Using a combination of approaches to communicate individual breast cancer risks could be associated with higher satisfaction of counselees. Given the increasing use of risk prediction models, it may be relevant to consider the preferences of both the counselee and the professional.     

Genetic instability of specific chromosomes associated with a family history of cancer

This study evaluated the association between family history of cancer and bleomycin-induced mutagen breaks at specific chromosomes. The authors' hypothesis was that individuals exhibiting mutagen-induced specific chromatid breaks might have genetic instability and thus be more likely to report a family history of cancer. The study included 78 healthy individuals. All subjects completed a personal interview to collect epidemiologic information, including a detailed family history of cancer, and donated a 10-mL blood sample. Bleomycin-induced mutagen sensitivity on specific chromosomes was quantified by counting the bleomycin-induced specific chromosomal breaks with Q-banding techniques. We found that chromosome 4 breaks were significantly associated with a positive family history of cancer in first-degree relatives with an odds ratio of 3.18 and 95% confidence interval of 1.05-9.61. However, none of the other chromosomes showed significantly increased risk with family cancer history. In addition, the mutagen-induced chromosome 4 breaks were not associated with age, sex, ethnicity, or smoking status. These findings suggested that chromosome 4 mutagen sensitivity might be a predictor of familial susceptibility to cancer.     

Most people share genetic test results with relatives even if the findings are normal: Family communication in a diverse population

PurposeWith increasing utilization of genetic testing, sharing genetic information can become part of general family health communication while providing biological relatives with important information about their own genetic risk. Importantly, little is known about motivations for and barriers to family communication of genetic information in historically underserved populations.MethodsUsing mixed methods, we explored patient experiences with family communication in a study population of English- and Spanish-speaking adults aged 18 to 49 years, enriched for participants from historically underserved backgrounds. Risk screening for hereditary cancer guided genetic testing for cancer risk genes and other medically actionable findings.ResultsMost participants overall (91%), including most with normal findings (89%), shared or planned to share their results with relatives. Common motivations for sharing results were to give relatives information about their genetic risk and because the participant thought the results were interesting. Reasons for not sharing were limited contact with relatives, perceptions of limited clinical utility for relatives, and concern that discussion of genetic information was stigmatized or taboo.ConclusionResults demonstrate high rates of sharing genetic information, indicate motivations for sharing go beyond facilitating genetic testing for relatives, and suggest general willingness to share genetic information as part of family health communication.     

Family history of breast cancer: what do women understand and recall about their genetic risk?

The current study has two aims: (1) to look at people's recall of risk information after genetic counselling and (2) to determine the impact of receiving an audiotape of the genetic consultation on level of recall, cancer related worry, and women's uptake of risk management methods. Using a prospective randomised controlled design, subjects receiving an audiotape were compared with a standard consultation group. Participants were drawn from attenders at the genetic clinics of two London hospitals and included 115 women with a family history of breast cancer. Assessment of perceived genetic risk, mental health, cancer worry, and health behaviour was made before counselling at the clinic (baseline) and by postal follow up. Usefulness of audiotapes and satisfaction with the clinical service was assessed by study specific measures. The data indicate that cancer worry is reduced by provision of an audiotape of the genetic consultation. Recall of the genetic risk figure, however, is not affected by provision of an audiotape and neither is it related to women's overall perception of being more or less at risk of breast cancer than the average woman. Forty-one percent of women accurately recalled their personal risk of breast cancer at one month follow up; however, 25% overestimated, 11% underestimated, and 23% could not remember or did not know their breast cancer risk. Recall of the risk figure is more accurate when the clinical geneticist has given this to the woman as an odds ratio rather than in other formats. Subsequent health behaviour is unaffected by whether women have an audiotape record of their genetic consultation. Results suggest that having a precise risk figure may be less important than women taking away from the consultation an impression that something can be offered to help them manage that risk. Provision of an audiotape of the consultation is of limited usefulness. The need for psychological care to be better integrated into genetic counselling at cancer family clinics was highlighted by the study. The results are discussed in terms of future service development.