Collection Of Family History Information Research Articles

Cognitive, clinical and genetic characterization of dementia in Cali, Colombia: A pilot study in a diverse population

AbstractBackgroundThe aging population and the prevalence of dementia are rapidly growing in Latin America. People with dementia are underdiagnosed and not well characterized in this region. The scenario is complicated by limited options for culturally proper testing and Latinos' socio‐biological and phenotypic diversity, which affect dementia presentation. In Cali, frontotemporal dementia (FTD) is misdiagnosed as a psychiatric disorder in >70% of cases. Delay in the accurate diagnosis and misdiagnosis of dementia affects genetic counseling, treatment, prognosis, and caregiver burden. Furthermore, most of the discovery efforts in genetics are based on data from populations of European ancestry. This bias in representation can exacerbate existing disease and healthcare disparities. Innovative technology for neuropsychological assessment could help make an early and accurate diagnosis. Genetic analysis is novel in this region, and the proposed work lays the basis for the genomic studies we advocate for.MethodWe will evaluate the accuracy of the TabCAT cognitive tests for the identification of cognitive impairment in participants previously diagnosed with FTD (N = 20), AD (N = 20), and healthy controls (N = 40). We also will assess the NPI. In addition, we will collect family history information for neurodegenerative diseases, genome sequencing of the sample.ResultWe hypothesize that the TabCAT evaluation will show sensitivity and specificity >.80 for detecting cognitive impairment, exceeding the accuracy of standard cognitive screenings, such as the Montreal Cognitive Assessment (MoCA). The assessment will be similarly accurate for detecting cognitive impairment in AD and bvFTD, each separately compared to controls. For participants with bvFTD, the NPI will improve the classification of bvFTD from controls and AD, above and beyond the cognitive tests. We hypothesize that 10‐20% of the participants will have a family history of dementia and be identified with genetic risk for neurodegenerative diseases.ConclusionThis pilot lays the groundwork to establish a new site for ReDLat, a consortium of multiple partners to expand dementia research in Latin America and the Caribbean. Assessing this underrepresented population, we will contribute to an accurate characterization of dementia in Colombia, which will improve dementia diagnosis and reduce health inequities in this region.

Using the cardiovascular risk profile in a community heart health outreach intervention: Implications for primary care.

Context: "HeartB," a community heart health intervention and academic partnership, focused on urban African African urban at high risk for heart disease, was implemented by community health workers (CHW) and a community nurse. Objective: The primary objective was to reduce heart disease risk in Detroit by increasing participants' knowledge of heart disease, with a secondary objective of facilitating prevention of developing heart disease by increasing understanding of how to lower risks for heart disease. Study Design and Analysis: Quasi-experimental (pre-post) design and six-month follow-up. Setting: Population health. Population: Adult (18 years or older) residing in an African-American majority city catchement. Intervention: A community nurse and CHW were cross-trained and used the The National Heart, Lung and Blood Institute (NHLBI) evidence-based family-focused "With Every HeartBeat Is Life: A Community Health Workers Manual for African Americans" with the Framingham Heart Study "General Cardiovascular Risk Profile for Use in Primary Care." Outcome: The community nurse and CHW successfully recruited adults at high risk for cardiovascular disease from 27 zipcodes throughout the city, primarily from community organizations and churches. Six-month follow-up was completed with 96% of participants. Results: The 100 participants were 55% Female, 39% Male and 6% Transgender, with a mean age of 44.57 years (s.d.=15.9) and 97% were African-American. 92% reported having a primary care physician, with about half (52%) on Medicare/Medicaid. Following collection of family history information, participants met with the project nurse and CHW for clinical assessments, (weight, BP and medical history) and to discuss their cardiovascular risk factors. Based on the clinical assessment and medical history, the Framingham Heart Study Risk Assessment non-lab tool (D'Agostino, 2007) was used to provide the participants with their heart age and CVD risk for developing heart disease in the next ten years. 54% had <10% probability of a CVD event in the next 10 years, 26% had between a 10-19% probability, and 20% had a 20%/greater probability. Conclusions: Primary care physicians should be encouraged to work with CHW in African American communities to conduct long-term interventions to determine effective strategies for cardiovascular risk reduction.

Use of telephone intake for family history taking at a cancer genetics service in Asia.

Family history taking is a fundamental part of genetic counseling, and however, it is also a time-consuming process. To cope with the increasing demands at the Cancer Genetics Service in Singapore, alternative methods to collect patients' family history were implemented to reduce the duration of the initial consultation and increase the clinic's capacity. Two interventions were performed in this study, where a family history questionnaire and telephone intakes (telephone calls to collect patient family history) were implemented prior to a cancer genetics consultation. The primary outcome of this study is the duration of the initial consultation in relation to both interventions while the secondary outcome is the clinic attendance rate before and after implementing the telephone intake. The impact of interventions was evaluated with a Plan-Do-Study-Act (PDSA) methodology. The use of a family history questionnaire could not be evaluated due to poor patient response while the telephone intake was found to be feasible among the local population. Two improvements were observed after the implementation of telephone intake: (a) a significant reduction in the duration of the initial consultation from 60 to 45min (p=.001) and (b) a significant increase of 29.7% in clinic attendance (p=.01). This study demonstrates that collecting family history information ahead of genetic counseling via telephone intake is a useful measure in improving clinic capacity, which potentially resulting in optimization of clinical resources.

Impact of family history assessment on communication with family members and health care providers: A report from the Family Healthware™ Impact Trial (FHITr)

ObjectiveThis study examines the impact of Family Healthware™ on communication behaviors; specifically, communication with family members and health care providers about family health history. MethodsA total of 3786 participants were enrolled in the Family Healthware™ Impact Trial (FHITr) in the United States from 2005–7. The trial employed a two-arm cluster-randomized design, with primary care practices serving as the unit of randomization. Using generalized estimating equations (GEE), analyses focused on communication behaviors at 6month follow-up, adjusting for age, site and practice clustering. ResultsA significant interaction was observed between study arm and baseline communication status for the family communication outcomes (p's<.01), indicating that intervention had effects of different magnitude between those already communicating at baseline and those who were not.Among participants who were not communicating at baseline, intervention participants had higher odds of communicating with family members about family history risk (OR=1.24, p=0.042) and actively collecting family history information at follow-up (OR=2.67, p=0.026). Family Healthware™ did not have a significant effect on family communication among those already communicating at baseline, or on provider communication, regardless of baseline communication status. Greater communication was observed among those at increased familial risk for a greater number of diseases. ConclusionFamily Healthware™ prompted more communication about family history with family members, among those who were not previously communicating. Efforts are needed to identify approaches to encourage greater sharing of family history information, particularly with health care providers.

The role of nursing in obtaining a three-generation familial cancer history intake tool (FCHT) and the care of patients with hereditary gastrointestinal syndromes.

216 Background: Of patients diagnosed with colorectal cancer, 5-10% of all cancers are associated with hereditary cancer syndromes. Since hereditary gastrointestinal cancer syndromes convey a markedly increased risk for developing cancer, identification of affected families is important. Studies have found that clinicians are unlikely to adequately or routinely collect family history information on their patients. This study assessed the implementation of a validated three-generation family history intake tool by an advanced practiced nurse practitioner (APNP) and the impact on clinical practice at a mid-size academic affiliated Medical Oncology practice. Methods: From September 2013 to January 2014, 100 patients with the diagnosis of colorectal cancer were assessed after a clinic session with a physician by an APNP. The APNP utilized a validated 3 - generation family history tool. Information regarding age, sex, education, annual income, family ethnicity, diet, exercise and previous genetic testing was also collected. Data collected was then analyzed to assess risk of hereditary syndrome. A chart review of the patients was performed to analyze microsatellite instability testing and prior genetic counseling referrals. Results: Of the 100 screened, 93 patients were evaluable. There were 52 males: 39 female participants with a median age of 60.71 years (range 28-90). The implementation of FCHT was associated with an increase in identification of individuals at risk; 16 (17.2%) patients reported a diagnosis of CRC at age less than 50. The rate of referrals for genetic evaluation tripled after the implementation of the FCHT (6.5% to 16.3%). Of the 17 referred, five had been referred prior to implementation of the FCHT. Conclusions: Institution of a separate session with an APNP to assess family history resulted in a 3-fold increase in rates of detection of patients with high risk for hereditary cancer syndromes associated with colorectal cancer.This study demonstrates that APNP’s are well positioned to promote preventative health by engaging in family history intake and genetic assessment referral.

Nurses' attitudes, abilities and educational preference related to using family pedigrees in clinical practice

There is growing worldwide interest in using family pedigrees to assess health risks for diseases and implementing potential preventive interventions for health promotion. Nurses have been identified as key professionals in the process of collecting family history information and constructing pedigrees, and there is a gap in the literature related to these activities. The purpose of this study was to determine nurses' knowledge about, attitudes towards, perceived ability to use, and educational preference related to inclusion of family pedigrees in clinical practice. The study utilized a survey method with 174 nurses and correlational descriptive design. Results showed 74% of the nurses were interested in learning about family pedigrees and 64% responded positively to including them in clinical practice with the belief by 88% that they are helpful for preventive health care. Findings may be used to advance education and utilization of family pedigrees for nurses in clinical practice.

Reading Between the Lines: A Comparison of Responders and Non‐responders to a Family History Questionnaire and Implications for Cancer Genetic Counselling

Family history questionnaires (FHQ) are useful tools for cancer genetic counseling, providing an informational basis for pedigree construction and individualized cancer risk assessment. Reported return rates of mailed FHQs amongst familial cancer clinics that utilize them are lower than desired however, and it is unknown whether patients perceive required completion of a FHQ as a barrier to access of cancer genetics services. This study critically evaluated the use of a mailed FHQ for all routine new patient referrals to a single hereditary cancer clinic in Quebec, Canada. Reasons for response/non-response to a FHQ and the effect of administration of a questionnaire on patients' self-reported level of motivation to pursue genetic counseling, were examined. Of 112 eligible individuals referred during the study period, 86 completed a semi-structured telephone survey; of these, 45% had returned the mailed FHQ prior to the telephone survey (Responders) and 55% had not (Non-responders). Overall, the majority of participants indicated a FHQ is an acceptable and understandable method of collecting family history information. Most prevalent reasons for not returning the FHQ were (bad) timing (56%), and difficulty accessing family history information (46%). Non-response was significantly associated with difficulty in asking relatives for the requested information (p = 0.011), and Non-responders cited fewer overall perceived benefits of cancer genetic counseling as compared with Responders (p < 0.0001). One quarter of Non-responders returned the mailed FHQ following administration of the telephone survey, suggesting implementation of a follow-up prompt is a cost-effective way to increase response.

The Influence of Informant Characteristics on the Reliability of Family History Interviews

Family history interviews are widely used in psychiatric research, as well as in genetic and twin studies, and provide a way to collect family history information quickly and economically. To obtain a valid assessment of family history, it is important to investigate which family member will be able to provide accurate information. Previous research shows that the validity of family history reporting can be influenced by characteristics of the informant, such as age, gender and personal history of psychiatric disorder. The aim of this study was to investigate the role of a subject's position in a pedigree on the validity of data collection. Family history data on diabetes and psychiatric disorders were collected in three generations of 33 families by interviewing both an index subject (3rd generation) and his or her mother (2nd generation). Mothers were shown to report higher rates of diabetes and psychiatric disorder in the family compared to the index subjects. There was no significant difference in the disease rate reported by male and female index subject. Mothers who experienced a depressive episode indicated significantly more family members as having a psychiatric disorder than mothers who never experienced such an episode. This could be explained by the presence of informant bias, but may also result from the fact that depression is a heritable disorder and is therefore actually more prevalent in these families. Our findings suggest that family interview data should be collected by interviewing subjects who have a central position in the pedigree and can therefore provide information on his/her own generation, the previous and the next. In addition, psychiatric status of the informant should be carefully addressed.

Findings from a community education needs assessment to facilitate the integration of genomic medicine into primary care

PurposeTo assess the lay public's knowledge of, and beliefs about, genetics and genetic testing to create an educational initiative that promotes acceptance and utilization of genomic medicine in primary health care. MethodsA telephone survey of English-speaking adults in Guilford County, North Carolina was conducted in 2006 to identify community members' educational needs regarding genetics and genetic testing. ResultsMost respondents recognized the connection between family history and disease risk. A majority did not appear to know about: (1) basic principles of inheritance, (2) laws prohibiting genetic discrimination, and (3) the availability and limitations of genetic tests. About 25% thought that they could not reduce their risk if they have a genetic predisposition for disease. Knowledge level was affected by education, experience, age, and race. ConclusionIf primary care providers use family history as a risk assessment tool, community education programs must address (1) the collection of family health history, (2) legislation regarding genetic nondiscrimination, (3) benefits and limitations of existing genetic tests, and (4) genetic determinism. Programs emphasizing practical, “how to” information can be targeted to individuals likely to collect family history information and address misperceptions about discrimination, testing, and determinism.

The Application of Computer‐Based Tools in Obtaining the Genetic Family History

Family health history is both an adjunct to and a focus of current genetic research, having long been known to be a powerful predictor of individual disease risk. As such, it has been primarily used as a proxy for genetic information. Over the past decade, new roles for family history have emerged, perhaps most importantly as a primary tool for guiding decision-making on the use of expensive genetic testing. The collection of family history information is an important but time-consuming process. Efforts to engage the patient or research subject in preliminary data collection have the potential to improve data accuracy and allow clinicians and researchers more time for analytic tasks. The U.S. Surgeon General, the Centers for Disease Control and Prevention (CDC), and others have developed tools for electronic family history collection. This unit describes the utility of the Web-based My Family Health Portrait (https://familyhistory.hhs.gov) as the prototype for patient-entered family history.

Systematic review: family history in risk assessment for common diseases.

The usefulness of routinely examining family history in primary care practice is uncertain. To assess the beneficial and adverse effects of collecting family history in primary care populations; how well family history predicts individual disease risk; and how accurately patients report it. English-language studies in MEDLINE, EMBASE, CINAHL, Cochrane Central Register of Controlled Trials, and PsycINFO from 1995 to 2 March 2009. Two independent reviewers selected studies that met question-specific eligibility criteria. These included controlled and uncontrolled intervention studies of systematic family history collection and uptake of preventive interventions or adverse effects, longitudinal and cross-sectional studies that examined family history and disease frequency, and studies in which reported family history was validated against relatives' true disease status. Information about study quality, setting, and findings was extracted using standardized protocols. Two uncontrolled studies provided insufficient evidence to assess whether querying about family history improves any outcomes. One randomized, controlled trial and 2 uncontrolled studies provided weak evidence that some patients experienced a reversible, short-term increase in anxiety associated with family history taking. In 41 studies, different family history definitions were associated with sensitivities of 0 to 0.51 and specificities of 0.66 to 1.00 for detection of disease risk, and 0 to 0.83 and 0.48 to 1.00, respectively, for detection of prevalent disease. Twenty-three studies suggested that absence of disease in relatives was more accurately reported than presence of disease and that reporting accuracy was higher for information related to first-degree relatives than more distant relatives. Few studies were designed to address the specific questions of interest. Insufficient evidence evaluates how to collect family history information accurately in the primary care setting and the effects of taking family history on patient outcomes. Patients seem to correctly report the absence of disease in relatives more often than the presence of disease.

General practitioners' attitudes to assessment of genetic risk of common disorders in routine primary care

In 2003, the UK Department of Health set out the genetics white paper, a plan for action and investment with particular emphasis on integration of genetic health care into primary care. Since the delivery of the genetics white paper, there has been little exploration of UK primary care doctors' attitudes towards extending their role to include provision of routine genetics services. We explored explore general practitioners' (GPs) attitudes towards provision of genetic health care including routine family history screening and familial risk assessment for common disorders in primary care using a quantitative, evaluative postal survey. Only 25% (797 of 3160) of the GPs returned a completed questionnaire. Although 32% of GPs supported collection of family history information and 41.5% familial risk assessment, 18% were not willing to offer these services even if training is provided. Of the GPs, 50% stated they recognized when referral to genetics services is appropriate, although 43% felt unprepared to collect family history or assess familial risk. Lack of training within the last 3 years was a significant predictor of feeling unprepared to undertake these activities (OR = 2.53,p = 0.012). A substantial group of GPs remain unprepared or unwilling to provide genetic health care. GPs' attitudes to delivery of genetic health care are significantly influenced by factors such as a lack of evidence of the direct benefits to patients, local guidelines and specialist services. These factors need addressing if delivery of genetic health care is to be incorporated into routine primary care.

Development of a risk assessment tool for women with a family history of breast cancer

Background: Innovative technologies that enable the collection of family history information and the assessment of breast cancer risk have a potential to enhance the quality of preventive care. We developed a computerized tool that supports stratification of breast cancer risk, genetic risk assessment in the clinical environment (GRACE). Methods: In a preliminary evaluation of the tool's impact, we randomized women with a family history of breast cancer ( n = 72) to either use the GRACE tool or undergo risk counseling by a nurse specialist. Results: There was no statistically significant differences between the GRACE and nurse counselling groups in risk perceptions ( F = .03, P > .05) and cancer-related worries ( F = .80, P > .05). However, patients reported more positive attitudes toward working with the nurse. Conclusion: It was feasible to use GRACE in a Clinic. Additional research is required to identify solutions for providing emotional support in conjunction with the tool.

Race and family history assessment for breast cancer

Studies have demonstrated disparities in breast cancer screening between racial and ethnic groups. Knowledge of a woman's family history of breast cancer is important for initiating early screening interventions. The purpose of this study was to determine whether differences exist in the collection of family history information based on patient race. Cross-sectional patient telephone interview and medical record review. Eleven primary care practices in the Greater Boston area, all associated with Harvard Medical School teaching hospitals. One thousand seven hundred fifty-nine women without a prior history of breast cancer who had been seen at least once by their primary care provider during the prior year. Data were collected on patients regarding self-reported race, family breast cancer history information, and breast cancer screening interventions. Twenty-six percent (462/1,759) of the sample had documentation within their medical record of a family history for breast cancer. On multivariate analysis, after adjusting for patient age, education, number of continuous years in the provider's practice, language, and presentation with a breast complaint, white women were more likely to be asked about a breast cancer family history when compared to nonwhite women (odds ratio, 1.68; 95% confidence interval, 1.21 to 2.35). The majority of women seen by primary care providers do not have documentation of a family breast cancer history assessment within their medical record. White women were more likely to have family breast cancer information documented than nonwhites.

Issues of consent and feedback in a genetic epidemiological study of women with breast cancer

Women (N=21) who had had breast cancer and had been enrolled in a large genetic breast cancer epidemiological study were interviewed about their experience of participation in the study, their...

Identification and referral of families at high risk for cancer susceptibility.

Obtainment of family history and accurate assessment is essential for the identification of families at risk for hereditary cancer. Our study compared the extent to which the family cancer history in the physician medical record reflected that entered by patients directly into a touch-screen family history computer program. The study cohort consisted of 362 patients seen at a comprehensive cancer center ambulatory clinic over a 1-year period who voluntarily used the computer program and were a mixture of new and return patients. The computer entry was assessed by genetics staff and then compared with the medical record for corroboration of family history information and appropriate physician risk assessment. Family history information from the medical record was available for comparison to the computer entry in 69%. It was most often completed on new patients only and not routinely updated. Of the 362 computer entries, 101 were assigned to a high-risk category. Evidence in the records confirmed 69 high-risk individuals. Documentation of physician risk assessment (ie, notation of significant family cancer history or hereditary risk) was found in only 14 of the high-risk charts. Only seven high-risk individuals (6.9%) had evidence of referral for genetic consultation. This study demonstrates the need to collect family history information on all new and established patients in order to perform adequate cancer risk assessment. The lack of identification of patients at highest risk seems to be directly correlated with insufficient data collection, risk assessment, and documentation by medical staff.

New developments in genetics-knowledge, attitudes and information needs of practice nurses.

In response to increased referrals to geneticists and the predicted patient demand for genetic counselling, it has been proposed that some genetics services should be provided in primary care. Practice nurses are ideally placed to collect family history information and advise patients accordingly in new patient, family planning, well women/men and chronic disease clinics, but little is known about their knowledge, skills and attitudes towards providing genetic advice. The survey aimed to measure the current situation with regard to: the prevalence of family history recording by practice nurses; confidence in collecting and acting upon family history; and practice nurses' knowledge about familial disorders and genetics. It also investigated what practice nurses think their role should be in relation to the delivery of genetic services; their educational needs; and the most appropriate ways of delivering training/support. A postal questionnaire survey was carried out of all practices nurses (n = 909) in four Health Authorities in England (Oxfordshire, Northamptonshire, Nottingham and North Nottinghamshire) and one Health Board in Scotland (Lothian). Analyses were primarily descriptive. A total of 600 nurses (response rate = 66.0%) returned a completed questionnaire. Ninety-six per cent of practice nurses reported that they routinely collect family history information. Over half of the respondents had been consulted in the previous 3 months by patients with a worry about family history of cancer. Approximately 60% of nurses felt confident about collecting the relevant details regarding a family history of breast cancer but felt less confident in collecting the information regarding familial colorectal cancer. Nurses were also unsure how to proceed, with over a third of nurses referring patients to the GP even if they thought the patient was at population risk or, conversely, not referring those that they thought were at considerably higher risk to the GP. There was a reported need for education about familial disease in general and overall agreement that nurses could play a role in genetics in primary care. This study provides evidence of considerable activity from practice nurses regarding routine collection of family history. There is a need for further education for practice nurses regarding family history information and the new genetics so that this information is managed appropriately.

Family history information in biomedical research.

Family history information has been widely used in biomedical research for many years. Ethical concerns have recently been raised about the collection of such information. This article reviews the major roles played by family history information in biomedical research, explores what "private" means in the context of the collection of such information, examines the possible sources of harm from the collection of family history information, and discusses the implications of the possible special restrictions on "sensitive" family history information about psychiatric and drug use disorders. Family history information is vital to many aspects of biomedical research, especially human molecular and epidemiologic genetics. Substantial uncertainty remains about who "owns" family history information, and in several cases, such as childhood sexual abuse, it is hard to justify the position that "third-party" consent is needed. In many instances, the risk to third-party subjects can be minimized by safeguards to confidentiality and data integrity. Adding special restrictions for the collection of family history information on psychiatric and drug abuse disorders may reinforce stigma and substantially burden researchers examining these vital public health problems.

Federal regulations and the future of research in human and medical genetics.

Recent events in genetics research have generated questions about the efficacy of federal regulations that govern the conduct of biomedical research, particularly genetics research. The regulatory definitions of "human subject" and "private information" that have governed the conduct of research for two decades are presently under scrutiny because of ambiguities created by the methods of family studies in human and medical genetics. Geneticists customarily collect family history information for the purposes of tracking and characterizing genes in large families. Amassing family history information usually entails asking human subjects about the health status of collateral relatives. Whether these relatives should be regarded as human subjects for the purposes of giving informed consent is the issue that has triggered wide debate and an exhaustive re-examination of federal regulations and guidelines. The purpose of this article is threefold. First, a review of the development of current federal regulations provides a foundation and a point of departure for resolving current issues in genetics research. Second, a review of customary practices in genetics research furthers thought regarding regulations or guidelines to address specific issues in genetics. Third, it asserts that any new regulations or guidelines must provide appropriate protections for human subjects and their families while simultaneously supporting appropriate activities in genetics research.

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

OBJECTIVEA 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...