Factors associated with preimplantation genetic diagnosis acceptance among women concerned about hereditary breast and ovarian cancer

PurposeTo assess sociodemographic, clinical, awareness, and attitudinal factors associated with acceptance of preimplantation genetic diagnosis among women concerned about hereditary breast and ovarian cancer.MethodsParticipants (n = 962) were members of a national advocacy organization dedicated to empowering women at high risk for developing breast or ovarian cancer. Participants completed a web-based survey assessing factors associated with preimplantation genetic diagnosis acceptance. Factors significantly associated with acceptance in the bivariate analyses were used to build a logistic regression model.ResultsAmong the 962 respondents, 318 (33.1%) selected the option that they would consider preimplantation genetic diagnosis, 367 (38.2%) would not consider preimplantation genetic diagnosis, and 277 (28.8%) selected “don't know.” Significant predictors of preimplantation genetic diagnosis acceptance were the desire to have more children, having had a prenatal genetic test, preimplantation genetic diagnosis awareness, belief that preimplantation genetic diagnosis is acceptable for individuals at risk for hereditary breast and ovarian cancer, belief that preimplantation genetic diagnosis information should be given to individuals at risk for hereditary breast and ovarian cancer, concerns about preimplantation genetic diagnosis, perceived benefits of preimplantation genetic diagnosis, and how preimplantation genetic diagnosis is considered.ConclusionWomen at increased risk for hereditary cancer may consider preimplantation genetic diagnosis as part of their reproductive decision making. Therefore, it is important to understand existing levels of awareness and attitudes toward this technology to provide optimal counseling and support.     

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.     

Genetic and environmental risk assessment for colorectal cancer risk in primary care practice settings: a pilot study.

PURPOSE: The assessment of genetic variants and environmental exposures (i.e., genetic and environmental risk assessment) may permit individualized risk stratification for common diseases as part of routine care. A pilot study was conducted to assess the uptake of, and response to, testing for colorectal cancer risk among average risk patients in primary care practice settings. METHODS: Physicians in primary care practices identified patients eligible for colorectal cancer screening and referred them to the study. Research staff administered a baseline survey to consenting patients. At a scheduled office visit, participants underwent decision counseling with a trained nurse educator to facilitate informed decision making about being tested for methylene tetrahydrofolate reductase status and red blood cell folate level. Combined assessment can stratify colorectal cancer risk. Test results were disclosed within 2 weeks after the visit. Postvisit and 1-month endpoint surveys were administered. Univariable analyses of survey data were performed to assess changes from baseline in genetic and environmental risk assessment and colorectal cancer screening-related knowledge and perceptions. RESULTS: Of the 57 patients who were referred to the study, 25 (44%) consented to participate, and all but one were tested. Participant knowledge about genetic and environmental risk assessment and colorectal cancer screening, perceived colorectal cancer screening response efficacy, and perceived social support for colorectal cancer screening increased significantly from baseline. Participants reported low levels of intrusive thoughts about CRC. CONCLUSION: Knowledge and favorable perceptions of colorectal cancer screening increased, as did knowledge about genetic and environmental risk assessment, after exposure to the study intervention. Further research is needed to assess genetic and environmental risk assessment uptake and impact at the population level.     

Oncofertility in adolescent and young adult hereditary cancer: Considerations for genetics professionals

Adolescents and young adults(AYA)with a cancer diagnosis or those at risk for cancer due to hereditary cancer syndromes may benefit from genetic counseling and testing not only to manage personal risk but also to address reproductive concerns,especially fertility.The opportunity for genetic counselors to provide important risk information is relevant to both the newly diagnosed as well as to unaffected carriers and survivors.However,genetic counselors may need additional training in reproductive options related to AYA cancer to provide this valuable counsel.This commentary uses hereditary breast and ovarian cancer syndrome as a model to highlight important considerations when discussing preimplanatation genetic diagnosis and prenatal diagnosis,particularly in the context of expanded testing for hereditary cancer risk including multigene panels or whole exome or whole genome sequencing.Other hereditary cancers are also addressed;however,less is known about the psychosocial and fertility concerns in these AYA populations.Additionally,we provide an overview of the concept of"oncofertility"-the linkage between cancer care and reproductive medicine that aims to expand the reproductive opportunities of cancer patients-and offer support for the expansion of guidelines to include genetic counselors in AYA cancer patients’treatment planning related to reproductive health and fertility.     

Perceived disadvantages and concerns about abuses of genetic testing for cancer risk: differences across African American, Latina and Caucasian women

Participation in genetic testing for cancer risk is low among women of medically underserved ethnic groups and this is due, in part, to genetic testing attitudes, specifically perceived disadvantages of genetic testing and concerns about possible abuses of genetic testing. The goals of the current study were to: (a) explore genetic testing attitudes, and (b) determine the extent to which ethnicity, awareness of genetic testing, and medical mistrust are associated with genetic testing attitudes. African American, Latina, and Caucasian women (N=273) completed an interview assessing sociodemographic information, genetic testing awareness, medical mistrust, and genetic testing attitudes. Latina participants more strongly agreed with disadvantages of testing than the other ethnic groups. Both Latina and African American women more strongly concurred with concerns about testing abuses compared to Caucasian women. In hierarchical linear regression analyses, Spanish language preference and medical mistrust were the only significant predictors of perceived disadvantages and medical mistrust was the only significant predictor of abuse concerns. These findings support the importance of identifying genetic testing attitudes that may be culturally specific in order to promote culturally competent care by genetic risk professionals.     

A systematic review of perceived risks,psychological and behavioral impacts of genetic testing

Genetic testing may enable early disease detection, targeted surveillance, and result in effective prevention strategies. Knowledge of genetic risk may also enable behavioral change. However, the impact of carrier status from the psychological, behavior, and perceived risk perspectives is not well understood. We conducted a systematic review to summarize the available literature on these elements. An extensive literature review was performed to identify studies that measured the perceived risk, psychological, and/or behavioral impacts of genetic testing on individuals. The search was not limited to specific diseases but excluded the impacts of testing for single gene disorders. A total of 35 articles and 30 studies were included. The studies evaluated hereditary nonpolyposis colorectal carcinoma, hereditary breast and ovarian cancer, and Alzheimer disease. For affective outcomes, the majority of the studies reported negative effects on carriers but these were short-lived. For behavioral outcomes, an increase in screening behavior of varying rates was demonstrated in carriers but the change in behaviors was less than expected. With respect to perceived risk, there were generally no differences between carriers and noncarriers by 12 months after genetic testing and over time risk perception decreased. Overall, predispositional genetic testing has no significant impact on psychological outcomes, little effect on behavior, and did not change perceived risk. It seems as though better patient education strategies are required. Our data would suggest better knowledge among carriers would not have significant psychological impacts and therefore, it is worth pursuing improved educational strategies.     

Parents’ attitudes toward genetic testing of children for health conditions: A systematic review

This review assessed parents’ attitudes toward childhood genetic testing for health conditions, with a focus on perceived advantages and disadvantages. We also evaluated the factors that influence parents’ attitudes toward childhood genetic testing. We searched Medline, Medline In‐Process, EMBASE, PsycINFO, Social Work Abstracts and CINAHL. We screened 945 abstracts and identified 21 studies representing the views of 3934 parents. Parents reported largely positive attitudes toward childhood genetic testing across different genetic tests with varying medical utility. Parents perceived a range of advantages and disadvantages of childhood genetic testing. Childhood genetic testing was viewed by most as beneficial. Parents’ education level, genetic status, sex and sociodemographic status were associated with reported attitudes. This yielded some conflicting findings, indicating the need for further research. Genetic counseling remains essential to support this population in making well‐informed decisions. Targeted interventions tailored to specific families with different sociodemographic characteristics may be useful. Further research on the long‐term impact of childhood genetic testing on families is warranted.     

A systematic review of factors that act as barriers to patient referral to genetic services

Patients who might benefit from genetic services may be denied access through failure to be referred. To investigate the evidence on barriers to referral to genetic services, we conducted a systematic review of empirical evidence on this topic. Nine studies were included in the review. Barriers related to non-genetic healthcare professionals were: lack of awareness of patient risk factors, failure to obtain adequate family history, lack of knowledge of genetics and genetic conditions, lack of awareness of genetic services, inadequate coordination of referral and lack of genetics workforce. Those related to individuals affected by or at risk of a genetic condition were: lack of awareness of personal risk, lack of knowledge and/or awareness of medical history of family members and lack of knowledge of genetic services. Research on access to genetic services is heterogeneous; stronger empirical evidence is needed on factors that are barriers, and further research is needed to develop ‘targeted interventions'' for equitable access to genetic services in a range of populations.     

Who gets the information about genetic testing for cancer risk? The role of race/ethnicity,immigration status,and primary care clinicians

This study identified factors associated with awareness of genetic testing for cancer risk in the US general population. Multiple logistic regression analysis was used to analyze data from the 2000 National Health Interview Survey. The strong predictors were education, race/ethnicity, immigration status, health status, interaction with health professionals, controlling for socioeconomic status, cancer diagnosis, family history of cancer, and perceived personal cancer risk. The substantial lack of awareness of genetic testing among immigrant and ethnic populations warrants further research and tailored educational interventions. Ways to improve quality of patient interactions with non-genetic clinicians in promoting public knowledge of genetic testing for cancer risk are also worthy of further exploration.     

Using Disease-Related and Demographic Variables to Form Cancer-Distress Risk Groups

The use of disease-related (i.e., stage, phase, perceived health) and demographic (i.e., age, education, income) variables to identify subgroups of cancer patients and survivors manifesting divergent risk for psychosocial adjustment problems was assessed. Clustering procedures distinguished three clusters across two subsamples. In each subsample, low-risk participants had a low stage, a later phase, high perceived health, an older age, and a high education and income; moderate-risk participants had a low stage, a later phase, high perceived health, a greater age, and a low education and income; and high-risk individuals had high stage, an earlier phase, low perceived health, an average age, and a low education and income. Mean difference analyses showed that low-risk participants had higher psychosocial adjustment than high- and moderate-risk participants. High-risk participants had lower psychosocial adjustment than moderate-risk participants. The risk for psychosocial adjustment problems may be influenced by disease-related and demographic variables, and implications for the targeting of interventions are discussed.     

Psychosocial care in family cancer clinics in The Netherlands: a brief report

The present survey was undertaken to obtain a better understanding of the organisation of standard psychosocial services at the family cancer clinics in The Netherlands. Colleagues at the nine family cancer clinics in The Netherlands completed a brief questionnaire. It was found that all clinics offered professional psychosocial support for asymptomatic women from hereditary breast-ovarian cancer (HBOC) families. On average, one half-time psychosocial worker (usually a social worker and/or a psychologist) was involved in the genetic counselling. All clinics have developed education material about HBOC independently. As a result of the survey, an effort is made to coordinate the development of education material. Furthermore, it is concluded that more attention should be paid to symptomatic mutation carriers and those individuals, who receive inconclusive genetic test results. These subgroups are usually excluded from the protocols for psychosocial care in genetic counselling.     

Why do women attend familial breast cancer clinics?

The increasing demand for genetic assessment for familial breast cancer has necessitated the development of cancer genetics services. However, little is known about the factors motivating the client population likely to approach these services. A cross sectional questionnaire survey of 1000 women with a family history of breast cancer was conducted to identify self-reported reasons for attending a familial breast cancer clinic and possible differences in the characteristics of women who were attending for diverse reasons. Before attendance at clinic, 833 women completed a baseline questionnaire (83% response rate). Women who gave personal risk (n=188), awareness of a family history (n=120), risk to family members (n=84), reassurance (n=69), genetic testing (n=65), breast screening (n=46), or prevention (n=39) as their main reason for attending were compared on demographic and medical variables, and on psychological variables including general anxiety, cancer worry, perceived risk, and attitudes towards prophylactic surgery and genetic testing. Important differences in the psychological characteristics of these groups were found, which were unrelated to reported family history. In particular, women who primarily wanted genetic testing felt extremely vulnerable to developing breast cancer, were more likely to be considering prophylactic surgery, and perceived fewer limitations of testing. Those who primarily wanted reassurance were highly anxious about the disease. We recommend that cancer genetics services take into consideration the informational and psychological needs and concerns of their client group.     

Use of an educational computer program before genetic counseling for breast cancer susceptibility: effects on duration and content of counseling sessions.

PURPOSE: Patients seeking genetic testing for inherited breast cancer risk are typically educated by genetic counselors; however, the growing demand for cancer genetic testing will likely exceed the availability of counselors trained in this area. We compared the effectiveness of counseling alone versus counseling preceded by use of a computer-based decision aid among women referred to genetic counseling for a family or personal history of breast cancer. METHODS: We developed and evaluated an interactive computer program that educates women about breast cancer, heredity, and genetic testing. Between May 2000 and September 2002, women at six study sites were randomized into either: Counselor Group (n = 105), who received standard genetic counseling, or Computer Group (n = 106), who used the interactive computer program before counseling. Clients and counselors both evaluated the effectiveness of counseling sessions, and counselors completed additional measures for the Computer Group. Counselors also recorded the duration of each session. RESULTS: Baseline characteristics did not differ significantly between groups. Participants and counselors both rated the counseling sessions as highly effective, whether or not the sessions were preceded by computer use. Computer use resulted in significantly shorter counseling sessions among women at low risk for carrying BRCA1/2 mutations. In approximately half of the sessions preceded by clients' computer use, counselors indicated that clients' use of the computer program affected the way they used the time, shifting the focus away from basic education toward personal risk and decision-making. CONCLUSION: This study shows that the interactive computer program "Breast Cancer Risk and Genetic Testing" is a valuable adjunct to genetic counseling. Its use before counseling can shorten counseling sessions and allow counselors to focus more on the clients' individual risks and specific psychological concerns. As the demand for counseling services increases, a program such as this can play a valuable role in enhancing counseling efficiency.     

Genetic health messages in the mass media: Do the general public perceive non‐personalized genetic health message as personally relevant?

Objectives . Although health messages communicating the role of genetics in health and disease development are increasingly prevalent in our society, no research has examined whether the general public perceives such messages as believable or personally relevant. We examined whether the general public accepted genetic health messages and viewed them personally relevant in promoting their preventive behaviour. Design . Experimental pre‐test–post‐test measurement design was employed to contrast the information acceptance and perceived personal relevance of the genetic health message with a general health message. Methods . We presented a randomly selected group of Dutch participants (N=1,319) with either a health message about the genetic risk factors for salt sensitivity or with a general health message about salt sensitivity without reference to genetic risk factors. Risk perception and intention to restrict salt intake was assessed before and after participants read the messages while information acceptance and perceived personal relevance was only assessed post‐test. Results . Although we observed no effects of health message type on information processing, previously aware participants perceived the genetic health message as less personally relevant compared to the general health message. This difference in personal relevance resulted in lower estimates of susceptibility and a lower intention to engage in preventive behaviour among previously unaware participants. Conclusions . Genetic health messages in the mass media may not be effective in promoting (intentions to engage in) preventive behaviour due to their low perceived personal relevance by the public. Hence, identifying strategies to increase personal relevance for genetic education is needed.     

Social support networks and type of neurotic symptom among adults in British households

BACKGROUND: Current knowledge about associations between psychosocial factors and non-psychotic symptoms provide little information about their relationship to specific types of neurotic symptoms such as symptoms of fatigue, worry, phobic anxiety and obsessional symptoms. METHOD: The British National Survey of Psychiatric Morbidity was based on a cross-sectional random sample of 10,108 householders. Neurotic symptoms were established by lay interviewers using the revised fully structured Clinical Interview Schedule (CIS-R). Subjects were asked about perceived social support, the size of their close primary social network and sociodemographic attributes. To assess possible associations between specific types of neurotic symptoms and psychosocial risk factors multivariate Huber logistic models (a modified form of repeated measures design modelling) was used taking account of correlation between symptom types and sampling design including clustering. RESULTS: After controlling for sociodemographic factors the risk of having a high total CIS-R score (> or = 12) was approximately doubled for both types of poor social functioning. Specific types of neurotic symptoms were associated both with a small primary group and with inadequate perceived social support. Depression, depressive ideas and panic symptoms had a higher prevalence in multivariate models. Poverty was associated with low support. CONCLUSIONS: Associations with deficiencies in social support and self-reported neurotic symptoms are better explained by symptom type and in particular by depression than by the total number of symptoms. If confirmed by longitudinal study findings this knowledge could be used to inform the development of interventions to improve social support in order to reduce specific neurotic symptom types.     

Informal caregiving experiences in posttraumatic stress disorder: A content analysis of an online community

This study explored the experiences of individuals who self‐identify as providing support to a friend, family member, or significant other with posttraumatic stress disorder (PTSD). We analyzed and coded a total of 345 posts from an online support forum, with reference to 13 categories (finances, life interference, venting/emotional expression, maltreatment, sexual behavior, distress, prevented expression, physical health, communication, no personal space, isolation, and compassion fatigue). Categories for coding were established a priori and based on previous literature about caregiving and supporting. Results suggested that informal PTSD caregivers experience concerns involving interpersonal relations, emotional turmoil, and barriers to care for themselves and the individual they are caring for. This study provides a preliminary examination of the experiences and concerns of PTSD caregivers. Implications and suggestions for future research are discussed.     

Uptake of polygenic risk information among women at increased risk of breast cancer

Polygenic risk scores (PRSs) are increasingly being implemented to assess breast cancer risk. This study aimed to assess and determine factors associated with uptake of PRS among women at increased risk of breast cancer for whom genetic testing to date had been uninformative. Participants were recruited from the Variants in Practice study from which breast cancer PRS had been calculated. Four hundred women were notified by letter of the availability of their PRS and invited to complete a self-administered survey comprising several validated scales. Considering non-participants, uptake of PRS was between 61.8% and 42.1%. Multivariate logistic regression identified that women were more likely to receive their PRS if they reported greater benefits (odds ratio [OR] = 1.17, P = .011) and fewer barriers to receiving their PRS (OR = 0.80, P = .007), had completed higher level education (OR = 3.32, P = .004), and did not have daughters (0.29, P = .006). Uptake of breast cancer PRS varied according to several testing- and patient-related factors. Knowledge of these factors will facilitate the implementation of polygenic testing in clinical practice and support informed decision making by patients.     

Responses to Information about Psychosocial Consequences of Genetic Testing for Breast Cancer Susceptibility: Influences of Cancer Worry and Risk Perceptions

We assessed the impact of information about psychosocial consequences of genetic testing for breast cancer susceptibility on interest in and beliefs about genetic testing, and whether these effects vary by levels of either cancer worry or perceived cancer risk. Women (N = 180) in an experimental study were randomly assigned to read one of four messages consisting of standard information along with information about either psychosocial advantages, potential disadvantages, both advantages and disadvantages, or no additional information. Women receiving only standard information reported higher interest in obtaining genetic testing than did women who received additional information about advantages, disadvantages, or both advantages and disadvantages. Cancer worry (but not perceived risk) predicted greater interest and more favorable beliefs about the benefits of testing. Beliefs that testing causes emotional distress were positively associated with worry and negatively associated with risk perceptions.