Breast Cancer Survivors Coping with Lymphedema: What all Counselors Need to Know

The purpose of this study was to promote greater understanding among counselors and other helping professionals regarding the stressors associated with lymphedema, how women cope with the stressors, and the role of social support. An intensive qualitative study was conducted; data were analyzed using a consensual qualitative research approach. The results suggest that coping with lymphedema is complex and pervasive. Implications for counselors who work with cancer survivors who experience lymphedema are discussed.     

Managing Variant Interpretation Discrepancies in Hereditary Cancer: Clinical Practice,Concerns, and Desired Resources

Variant interpretation is a complex process, and classification may vary between sources. This study aimed to determine the practice of cancer genetic counselors regarding discrepancies in variant interpretation and to identify concerns when counseling these discrepancies. An electronic survey was sent to genetic counselors in the NSGC Cancer Special Interest Group. The vast majority of counselors (93%) had seen a variant interpretation discrepancy in practice. A large majority (96%) of respondents indicated that they conducted their own research on reported variants. Most respondents cited variant databases as the most common resource utilized in researching variants. Approximately 33% of counselors spent 45 min or more of extra time researching a discrepancy compared to researching a variant with a single classification. When asked how they approached counseling sessions involving variant interpretation discrepancies, the free responses emphasized that counselors considered family history, clinical information, and psychosocial concerns, showing that genetic counselors tailored the session to each individual. Discrepancies in variant interpretation are an ongoing concern for clinical cancer genetic counselors, as demonstrated by the fact that counselors desired further resources to aid in addressing these discrepancies, including a centralized database (89%), guidelines from a major organization (88%), continuing education about the issue (74%), and functional studies (58%). Additionally, most respondents reported that the ideal database would be owned by a non-profit organization (59%) and obtain information directly from laboratories (91%). This investigation was the first to address these discrepancies from a clinical point of view. The study demonstrates that discrepancies in variant interpretation are a concern for clinical cancer genetic counselors and outlines the need for additional support.     

Collaboration of Colorado Cancer Genetic Counselors to Integrate Next Generation Sequencing Panels into Clinical Practice

The recent introduction of clinically available next generation sequencing (NGS) cancer panels has presented new challenges for genetic counselors. Determining which patients are appropriate for NGS panel testing is complex. Due to the large number of genes included in the NGS panels, thorough and appropriate pre-test counseling and interpretation of NGS results can be a time-consuming and difficult process. Many of the genes associated with increased cancer risk lack published clinical management guidelines and estimates of cancer risk for individuals with deleterious mutations. In order to efficiently and effectively review the clinical utility of NGS panels, Colorado cancer genetic counselors formed a working group to gain a better understanding of the genes included in NGS cancer panels. This publication reports on the approach of this group, the process used to evaluate a selected NGS panel, future directions for this collaboration, and ideas for other genetic counselors to form similar groups to efficiently evaluate new technologies and improve practice.     

A Relational Approach to Genetic Counseling for Hereditary Breast and Ovarian Cancer

Ethical issues arise for genetic counselors when a client fails to disclose a genetic diagnosis of hereditary disease to family: they must consider the rights of the individual client to privacy and confidentiality as well as the rights of the family to know their genetic risk. Although considerable work has addressed issues of non-disclosure from the client’s perspective, there is a lack of qualitative research into how genetic counselors address this issue in practice. In this study, a qualitative approach was taken to investigate whether genetic counselors in Australia use a relational approach to encourage the disclosure of genetic information from hereditary breast and ovarian cancer (HBOC) clients among family members; and if so, how they use it. Semi-structured qualitative interviews were conducted with 16 genetic counselors from selected states across Australia. Data collection and analysis were guided by a basic iterative approach incorporating a hybrid methodology to thematic analysis. The findings provide indicative evidence of genetic counselors employing a relational approach in three escalating stages––covert, overt and authoritative––to encourage the disclosure of genetic information. The findings lend credence to the notion that genetic counselors envision a form of relational autonomy for their clients in the context of sharing genetic information, and they depart from individualistic conceptions of care/solely client-centered counseling when addressing the needs of other family members to know their genetic status.     

A Qualitative Study of Health Professionals' Views Regarding Provision of Information About Health-Protective Behaviors During Genetic Consultation for Breast Cancer

This study aimed to explore health professionals' views and practice regarding the provision of information about health-protective behaviors (e.g., exercise, alcohol consumption, diet) during genetic consultation for breast cancer. Ten genetic counselors participated in three focus groups, and seven medical specialists were interviewed in a focus group or individually. Data was analyzed using the constant comparative method. Findings suggested that health professionals held differing, often opposing, views about the value of health-protective behaviors for women at increased risk of breast cancer. The content and extent of information provided about health-protective behaviors varied widely, and participants expressed a need to form consensus regarding information provision both within and across clinics. The main barriers to providing information regarding health-protective behaviors included the lack of research evidence regarding the impact of these factors and higher priority of other information need to be provided in the limited consultation time. Participants generally did not consider it their role to promote health-protective behaviors, and were concerned about the psychological impact of providing information about behavioral risk factors during genetic consultations.     

Does Receiving Genetic Counseling Impact Genetic Counselor Practice?

This study was an investigation of whether genetic counselors have received genetic counseling and if so, how they believe it affects their practice. One thousand genetic counselors were mailed surveys about the nature of genetic counseling services received, impact on their clinical practice, frequency and reasons for disclosing about their receipt of counseling to their clients, and demographics. Ninety-three of the 510 respondents reported receiving genetic counseling. Of these, almost three-fourths were practicing genetic counselors while receiving services. Reasons for services include prenatal concerns, family history of cancer, and history/risk of other genetic conditions. Frequently endorsed effects on practice include increased empathy and understanding of client decisions, feeling more connected with clients, greater emphasis on psychosocial support, and sympathy. Forty-six respondents disclosed to clients about their receipt of genetic counseling. Prevalent reasons include client asked, help clients feel they are not alone, demonstrate counselor understanding, decrease client anxiety, build rapport, and normalize client feelings. Practice and research recommendations are given.     

Mothers’ Perspectives on Their Child’s Mental Illness as Compared to Other Complex Disorders in Their Family: Insights to Inform Genetic Counseling Practice

To facilitate the development of a therapeutic alliance in genetic counseling, it is important that the counselor understands how families might perceive the condition that constitutes the reason for the referral. Through training and professional practice, genetic counselors develop a thorough understanding of families' perceptions of the conditions that are common indications for genetic counseling. But, for referral indications that are less frequent, like serious mental illnesses, genetic counselors may feel less confident in their understanding of the family's experience, or in their ability to provide psychosocial support when serious mental illness is reported in a family history. This may impede the establishment of a therapeutic alliance. As research shows that most referrals for genetic counseling related to serious mental illness are for female first-degree family members of affected individuals, we sought to explore how this group perceives serious mental illness. To provide a frame of reference with which genetic counselors may be more familiar, we explored how women perceived serious mental illness compared to other common complex disorders in their family. We conducted semi-structured interviews with women who had a child with a serious mental illness (schizophrenia, schizoaffective disorder, bipolar disorder) and a first-degree relative with another common complex disorder (diabetes, heart disease, cancer). Interviews were transcribed and subjected to thematic analysis. Saturation was reached when nine women had participated. Serious mental illness was perceived as being more severe and as having a greater impact on the family than diabetes, heart disease, or cancer. Themes identified included guilt, stigma, and loss. Some of the most important issues that contribute to mothers' perceptions that serious mental illness is more severe than other common complex disorders could be effectively addressed in genetic counseling. Developing a heightened awareness of how family members experience a relative's mental illness may help genetic counselors to be better able to provide psychosocial support to this group, whether serious mental illness constitutes the primary reason for referral or appears in the family history during counseling for a different referral reason.     

Reproductive Endocrinologists’ Utilization of Genetic Counselors for Oncofertility and Preimplantation Genetic Diagnosis (PGD) Treatment of <Emphasis Type="Italic">BRCA1/2</Emphasis> Mutation Carriers

Genetic counselors believe fertility preservation and preimplantation genetic diagnosis (PGD) discussions to be a part of their role when counseling BRCA1/2 mutation-positive patients. This study is the first to explore reproductive endocrinologists’ (REI) practices and attitudes regarding involvement of genetic counselors in the care of BRCA1/2 mutation carriers seeking fertility preservation and PGD. A survey was mailed to 1000 REIs from Reproductive Endocrinology & Infertility (SREI), an American Society for Reproductive Medicine (ASRM) affiliate group. A 14.5 % response rate was achieved; data was analyzed using SPSS software. The majority of participating REIs were found to recommend genetic counseling to cancer patients considering fertility preservation (82 %) and consult with a genetic counselor regarding PGD for hereditary cancer syndromes (92 %). Additionally, REIs consult genetic counselors regarding PGD patient counseling (88 %), genetic testing (78 %), and general genetics questions (66 %). Two areas genetic counselors may further aid REIs are: elicitation of family history, which is useful to determine fertility preservation and PGD intervention timing (32 % of REIs utilize a cancer family history to determine intervention timing); and, interpretation of variants of uncertain significance (VOUS) as cancer panel genetic testing becomes more common (36 % of REIs are unfamiliar with VOUS). Given our findings, the Oncofertility Consortium® created an online resource for genetic counselors focused on fertility preservation education and communication strategies.     

Billing and Record-Keeping for Familial Cancer Risk Counseling: A National Survey

We surveyed 111 genetic counselors providing cancer risk counseling (CRC) in order to document their billing and record-keeping practices. Of the 75 respondents, billing was generally done under the supervising physician with a wide variation in charges. Follow-up telephone interviews with 28 counselors who charge patients revealed that billing was usually done using the CPT codes for consultations, and the ICD-9 diagnostic codes for cancer (if applicable), a medical complaint, or a family history of cancer code. Most counselors exclude some clinical information from the patient's medical record. In consultation notes, 81% of counselors document a discussion of genetic testing, but only 37% document the patient's actual testing decision, and only 19% document test results. In anticipation of increased referrals for CRC, data are needed on the components of a CRC visit, the amount of time required to provide CRC, patient outcomes measures, and charges and reimbursement. The feasibility and advisability of keeping results separate from the patient's medical record also needs to be addressed.     

A Preliminary Investigation of the Role of Religion for Family Members of Lesbian,Gay Male,or Bisexual Male and Female Individuals

Religious faith is an important aspect of many people's lives, but the doctrinal teachings of many faiths are that homosexuality is a sin. Little is known about the impact of these teachings on the family members of lesbian, gay male, or bisexual male and female (LGB) individuals. Eighty‐eight family members of LGB individuals were surveyed regarding the role of religion in acceptance of their family member and how they reconciled any conflicts between religious beliefs and family member's sexual orientation. The most commonly identified theme was believing that the unconditional love associated with God extended to their LGB family member. Implications for counselors are discussed.     

Decision Making with Uncertain Information: Learning from Women in a High Risk Breast Cancer Clinic

Patients and practitioners may believe that clinically validated laboratory tests provide definitive information. Genetic counselors know this is not always so, and the possibility of inconclusive genetic test results is often discussed in the pretest counseling session. This added discussion topic prolongs the process of genetic counseling, but if there is inadequate patient understanding, patient frustration may be high when receiving a result of uncertain significance, and patients may make decisions about subsequent medical management based on incorrect assumptions. For patients/participants in a research setting, where the clinical validity of testing may be unclear, some patients/participants may still want to use test results to influence their medical management. This paper presents findings from a qualitative study wherein 15 women from the High Risk Breast Cancer Clinic at Utah's Huntsman Cancer Institute discussed how uncertainty regarding results affected their decision making. The women were randomly selected from 3 categories--women with test results of uncertain significance; women without cancer who have a mutation; and women who are members of high-risk families, but for whom no mutation was found. Study findings will be used in future studies to better understand how to improve communication regarding uncertain results, especially in a research environment.     

A Clinical Decision Support Tool to Predict Cancer Risk for Commonly Tested Cancer-Related Germline Mutations

The rapid drop in the cost of DNA sequencing led to the availability of multi-gene panels, which test 25 or more cancer susceptibility genes for a low cost. Clinicians and genetic counselors need a tool to interpret results, understand risk of various cancers, and advise on a management strategy. This is challenging as there are multiple studies regarding each gene, and it is not possible for clinicians and genetic counselors to be aware of all publications, nor to appreciate the relative accuracy and importance of each. Through an extensive literature review, we have identified reliable studies and derived estimates of absolute risk. We have also developed a systematic mechanism and informatics tools for (1) data curation, (2) the evaluation of quality of studies, and (3) the statistical analysis necessary to obtain risk. We produced the risk prediction clinical decision support tool ASK2ME (All Syndromes Known to Man Evaluator). It provides absolute cancer risk predictions for various hereditary cancer susceptibility genes. These predictions are specific to patients’ gene carrier status, age, and history of relevant prophylactic surgery. By allowing clinicians to enter patient information and receive patient-specific cancer risks, this tool aims to have a significant impact on the quality of precision cancer prevention and disease management activities relying on panel testing. It is important to note that this tool is dynamic and constantly being updated, and currently, some of its limitations include (1) for many gene-cancer associations risk estimates are based on one study rather than meta-analysis, (2) strong assumptions on prior cancers, (3) lack of uncertainty measures, and (4) risk estimates for a growing set of gene-cancer associations which are not always variant specific. All of these concerns are being addressed on an ongoing basis, aiming to make the tool even more accurate.     

Family Adjustment to Childhood Cancer: A Systematic Review

This systematic review integrates qualitative and quantitative research findings regarding family changes in the context of childhood cancer. Twenty-eight quantitative, 42 qualitative, and one mixed-method studies were reviewed. Included studies focused on family functioning, marital quality, and/or parenting in the context of pediatric cancer, were written in English, and were published between 1996 and 2009. Overall, qualitative findings show that families alter roles, responsibilities, and day-to-day functioning to accommodate the needs of children with cancer. Although some degree of family reorganization is normative, the extent and impact of these changes varies. Quantitative work shows that mean levels of family functioning (e.g., cohesion, flexibility) are similar between families facing cancer and normative or comparison samples. However, families follow different trajectories of improvement, decline, or stability in family closeness and marital quality. Parenting has received limited quantitative research attention, but qualitative work suggests that parents perceive deeper bonds with ill children and may spoil or overprotect them. Conclusions support future work examining the influence of family-level variables on the adjustment of individual family members.     

Focusing on Patient Needs and Preferences May Improve Genetic Counseling for Colorectal Cancer

During cancer genetic counseling, different items which counselors consider important are discussed. However, relatively little empirical evidence exists regarding the needs and preferences of counselees. In this study needs and preferences were assessed from counselees with a personal and/or family history of colorectal cancer (CRC), who were referred for genetic counseling regarding CRC. They received a slightly modified version of the QUOTE-GENE^ca questionnaire prior to their first visit to the Hereditary Cancer Clinic. Response rate was 60 % (48/80 participants). Counselees rated the importance of 45 items assessing their needs and preferences regarding the content and process of genetic counseling. Participants rated the items regarding discussion of information about their familial CRC risk (100 %) and preventive options (98 %) as important or very important. Fewer participants rated items concerning general information on genetics as important. Sensitive communication during counseling was considered very important by a large percentage of counselees. Generally, no major differences were seen between participants in relation to individual characteristics. Our data suggest that focusing on familial CRC risk and surveillance options, in combination with sensitive communication may lead to better satisfaction with genetic counseling.     

Spouses of Cancer Patients: A Review of the Literature

This article discusses the impact on the spouse when his or her partner is being treated for cancer. The disease is defined, treatment effects are outlined, and issues affecting the psychological and marital adjustment of spouses are described. Implications are offered for counselors who work with spouses of cancer patients.     

Barriers to and Motivations for Physician Referral of Patients to Cancer Genetics Clinics

Although it is well known that under-referral of colon cancer patients to cancer genetics clinics is a chronic problem, no study has yet examined why physicians may be ordering testing independently rather than referring patients to cancer genetics clinics. The current study explored variables which may impact a physician’s preference for ordering testing independently or referring patients to outside cancer genetics experts. An online questionnaire, distributed to the membership of the American College of Gastroenterology and the American Society of Colorectal Surgeons, yielded responses from 298 physicians. Motivations to refer to cancer genetics clinics rather than order testing independently included fear of genetic discrimination and a belief that patients benefit from genetic counseling about the risks, benefits and consequences of testing. These results suggest that in order to increase referrals, genetic counselors must educate physicians about the unique benefits patients receive from participating in genetic counseling.     

Children and Adolescents of Cancer Patients: The Impact of Cancer on the Family

In this article, extant literature was reviewed to examine the impact of parental cancer on the family. Many researchers and scholars have hypothesized that parental illnesses, like cancer, can affect all levels of the family system. However, most psychosocial research to date has focused on how cancer affects the patient and the couple. Consequently, little is known about how parental cancer affects the psychosocial development of children and adolescents. Therefore, research is needed to explore how children and adolescents are negatively impacted or protected from the effects of living with a parent who has cancer. More specifically, longitudinal studies that examine the mechanisms by which the cancer affects children's and adolescents' functioning can help physicians and family therapists clinically intervene in more efficacious ways.     

Qualitative Cancer Genetic Counseling Research, Part II: Findings from a Exploratory Ethnographic Study in a Cancer Clinic

This is a report of the preliminary findings of a brief exploratory ethnographic study in a cancer diagnosis and treatment clinic. The main research purpose was to explore the meaning of cancer and cancer treatment to patients themselves and to their relatives and close friends. The methods are described in detail in a paper focusing on the experiences of being a novice ethnographer (Peters et al. (2001) J Genet Counsel 10(2):133–150.). The preliminary results of this exploratory fieldwork indicate that the experience of attending a cancer treatment clinic for evaluation and/or treatment is a complex social, emotional as well as medical process for patients and families. Themes with relevance to genetic counselors that emerged from this early observation period included ideas about causes of cancer, the complex nature of families and kinship, coping and support, use of food, and healing. These initial findings have implications for genetic counseling practice and hopefully will stimulate more qualitative social and behavioral research in cancer genetic counseling.     

The Impact of Cancer on Psychological and Social Outcomes

Cancer is now the biggest cause of mortality worldwide. Although the debilitating physical symptoms of cancer have long been known, the psychological and social impacts of cancer have become the subject of examination only relatively recently. The psychological outcomes that have been examined are primarily negative emotional variables, e.g., anxiety, but emerging research has focused on positive emotional variables, e.g., post‐traumatic growth, or cognitive outcomes. In this article, we provide a synthesis of reviews that have addressed the psychosocial impact of cancer. The framework for this synthesis is provided by a conceptualisation in which the presence of cancer impacts on psychosocial outcomes either directly or via mediating variables, including physical symptoms and treatment, and that this effect may be moderated by several variables, some characteristic of the person with cancer (demographic or personality‐related variables) and some characteristic of their environment (social support and medical variables). We also briefly examine the impact of cancer on the broader family unit following cancer diagnosis, treatment, survivorship and bereavement. We conclude that the heterogeneity of the cancer experience highlights the need for theoretically driven research and consistency in measurement approaches to determine mechanisms by which cancer exerts influence on psychosocial outcomes. This would allow development and delivery of targeted psychological interventions and a clearer delineation of the roles of the various parties, including clinical psychologists, family members and policymakers.