Family Information Management in the Context of Inherited Conditions: An Integrative Review.

This review aimed to develop a framework to understand the process of information management in families with inherited conditions. Electronic databases were searched for relevant peer-reviewed articles. Articles were included if they were original research on families affected by any confirmed inherited condition, described how a family accesses, interprets, conveys, and/or uses information about the disease, included the recruitment of more than one family member, and used family as the unit of analysis.

Challenges and opportunities faced by nurse scientists in integrating data and technology in research to promote health equity.

Advances in technologies including omics, apps, imaging, sensors, and big data are increasingly being integrated into research by nurse scientists, but the impact on improving health equity is still unclear. In this article, nursing research faculty from one institution discuss challenges and opportunities experienced when integrating various technologies into their research aimed at promoting health equity. Using exemplars from faculty experiences, a three-pronged approach to keeping patients and communities and the goal of health equity central in research while incorporating advancing technologies is described.

From Probands to Relatives: Communication of Genetic Risk for Hereditary Breast-Ovarian Cancer and Its Influence on Subsequent Testing.

Background: The genetic risk communication from proband to relatives varies from family to family, and patients often need support with the communication of genetic test results and making decisions to manage hereditary cancer risks.

Objective: The aim of this study was to characterize the communication of BRCA1 or BRCA2 (BRCA1/2) genetic risk from proband to first-degree relatives (FDRs) using a social network framework.

Methods: We characterized network and nonnetwork factors to explore their association with which FDRs were told about the genetic risk and whether or not relatives underwent genetic testing.

Experiences of BRCA1/2 Gene Mutation-Positive Women With Cancer in Communicating Genetic Risk to Their Relatives.

Background: When a woman is diagnosed with hereditary breast or ovarian cancer, family members may be at high risk of cancers associated with BRCA1/2 gene mutation and benefit from disclosure of the genetic test result. This duty of informing relatives may be distressing, or relatives may not be properly informed.

Objective: To qualitatively describe breast cancer patients' experiences communicating genetic risk of cancer to their relatives.

All things considered, my risk for diabetes is medium: A risk personalization process of familial risk for type 2 diabetes.

Background: A positive family history of type 2 diabetes (T2D) has been associated with risk awareness and risk-reducing behaviours among the unaffected relatives. Yet, little is known about how people with a positive family history for diabetes develop and manage their personal sense of risk.

Objective: To characterize two key concepts, salience and vulnerability, within the familial risk perception (FRP) model among unaffected individuals, at increased familial risk for T2D.

Social Network Factors and Anxiety Among Adolescents With Type 1 Diabetes and Their Parents.

Stressors generated by chronic illnesses in adolescents are experienced in the broader social context of their lives. The purpose of this study was to examine the social networks of 15 adolescents with type 1 diabetes and 25 parents and evaluate associations of social support and kinship type with state and trait anxiety. Social network data were collected through individual interviews.

Family Relationships Associated With Communication and Testing for Inherited Cardiac Conditions.

The purpose of this study was to identify characteristics of family relationships associated with communication of genetic risk and testing behaviors among at-risk relatives in families with an inherited cardiac condition. Data were collected from 53 patients and parents of children with an inherited cardiac condition through interviews, pedigrees, and surveys. Associations were examined among family relationship characteristics and whether at-risk relatives were informed about their risk and tested for disease.

Family Communication About Genetic Risk of Hereditary Cardiomyopathies and Arrhythmias: an Integrative Review.

Screening for hereditary cardiomyopathies and arrhythmias (HCA) may enable early detection, treatment, targeted surveillance, and result in effective prevention of debilitating complications and sudden cardiac death. Screening at-risk family members for HCA is conducted through cascade screening. Only half of at-risk family members are screened for HCA.

Mental Models of Cause and Inheritance for Type 2 Diabetes Among Unaffected Individuals Who Have a Positive Family History.

Using the familial risk perception (FRP) model as a framework, we elicited causal and inheritance explanations for type 2 diabetes (T2D) from people who do not have T2D but have a family history for it. We identified four composite mental models for cause of T2D: (a) purely genetic; (b) purely behavioral/environmental; (c) direct multifactorial, in which risk factors interact and over time directly lead to T2D; and (d) indirect multifactorial, in which risk factors interact and over time cause a precursor health condition (such as obesity or metabolic syndrome) that leads to T2D. Interestingly, participants described specific risk factors such as genetics, food habits, lifestyle, weight, and culture as "running in the family.

Evaluation of the Perception of Risk Factors for Type 2 Diabetes Instrument in an At-Risk, Nondiabetic Population.

Background And Purpose: This study evaluated the psychometric properties of the Perception of Risk Factors for Type 2 Diabetes (PRF-T2DM), an instrument designed to measure awareness and vulnerability to diabetes and diabetes risk factors.

Methods: 248 individuals at increased risk for diabetes because of a positive family history completed the PRF-T2DM. The factor-structure, internal consistency reliability, and construct validity of the PRF-T2DM were examined.

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 disclosure of incidental genomic findings: an "ethically important moment" in pediatric research and practice.

Although there are numerous position papers on the issues and challenges surrounding disclosure of incidental genomic findings involving children, there is very little research. To fill this gap, the purpose of this study was to explore the perspectives of multiple professional (N = 103) and public (N = 63) stakeholders using both interviews and focus groups. Using qualitative analysis, we identified one overarching theme, "It's hard for us; it's hard for them," and three subthemes/questions: "What to disclose?," "Who gets the information?," and "What happens later?" Perspectives differed between professional (Institutional Review Board chairs, clinicians, and researchers) and public stakeholders.

A closer look at the recommended criteria for disclosing genetic results: perspectives of medical genetic specialists, genomic researchers, and institutional review board chairs.

Next generation sequencing offers benefit of improved health through knowledge, but comes with challenges, such as inevitable incidental findings (IFs). The applicability of recommended criteria for disclosure of individual results when applied to disclosure of IFs is not well known. The purpose of this study was to examine how medical genetic specialists, genomic researchers, and Institutional Review Board (IRB) chairs perceive the importance of recommended criteria when applied to genetic/genomic IFs.

Nurses' perceived benefits, barriers, and educational recommendations for using family pedigrees in clinical practice.

Background: There is growing emphasis on the use of genetics and genomics, including family pedigrees, in nursing education. This study explored nurses' perceptions of the benefits, barriers, and educational recommendations related to family pedigrees.

Methods: A qualitative design using focus group methods was used to gather data from a convenience sample of 28 nurses working at a large medical center in the Midwestern United States.