Genetic Counseling Process Research Articles

496P - A Multidisciplinary Approach to Heredofamilial Cancer Syndromes: Evaluation of the First Four Years of Experience at a Spanish University Hospital

ABSTRACT Aim: Heredofamilial cancer syndromes (HCS) need a multidisciplinary approach, since: 1) different organs and systems can be affected; and 2) different risk-reducing strategies, involving several medical and surgical specialists, should be provided. With this in mind, we implemented in 2010 a multidisciplinary heredofamilial cancer unit (HFCU) in our hospital. Methods: Retrospective analysis of the first 4 years the HFCUs activity. Results: A total of 1070 patients, from 927 different families were attended. 761 (71%) patients fulfilled international criteria for HCS. Genetic test results (GTR) were available for 323 patients at the time of analysis, with 115 cases (35.6%) of pathological mutations (MUT) detected. New mutation detection rate (first time diagnosis in a family) was 22%.The distribution according to pathology is summarized in the table. In patients with pathogenic mutations, risk reducing surgery (RRS) and /or follow up were offered according to international guidelines and patients' preferences: 34.8% patients went to RRS, while 65.2% only went to follow up. MUT / GTR (%) Breast & ovarian 84/231 (36.3) Lynch 14/36 (38.9) Poliposis 6/16 (37.5) Li Fraumeni 2/10 (20) Melanoma/pancreas 1/8 (12.5) Cowden 1/7 (14.3) MEN 3/6 (50) VHL 1/3 (33.3) Diffuse gastric 1/3 (33.3) NF1 1/2 (50) Gorlin 1/1 (100) TOTAL 115/323 (35.6) Conclusions: The implementation of an HFCU has provided a multidisciplinary assistance to a wide number of patients at risk in its first four years of activity. Patients were well pre-selected, as revealed by the high new mutation detection rate. However, further analysis must be done in order to evaluate the real impact of these interventions, to improve the different steps and timing of the genetic counseling process, and to receive the input from patients and their families Disclosure: All authors have declared no conflicts of interest.

Needs of Labor and Delivery Nurses Caring for Women Undergoing Pregnancy Termination

To explore the psychosocial, educational, and administrative support needs of labor and delivery (L&D) nurses who care for women undergoing pregnancy termination. A qualitative, descriptive design. This study was conducted on a L&D unit at a large, university-affiliated hospital in Quebec, Canada. A convenience sample of 10 L&D nurses participated in this study. Ages of participants ranged from 25 to 55years, and experience on the unit ranged from 1 to 30years. One-time, face-to-face interviews were conducted with each participant. Audio-recorded interviews were transcribed verbatim and analyzed using inductive content analysis. Participants valued interpersonal support from nurse colleagues and guidance from experienced nurses in managing the emotional aspect of this care. They raised concerns about the effect of nursing workload and patient-to-nurse ratios on patient care. Nurses noted a desire for knowledge and skill-building through access to evidence-based literature, continuing education sessions, and workshops. They also expressed a need for more information regarding the genetic counseling process and community resources available to women undergoing pregnancy termination. Ensuring continuity of care through knowledge sharing related to genetic counseling and community resources creates the context for holistic patient care. Increased attention to the particular needs of L&D nurses providing care to women undergoing termination may enhance the quality and safety of care for this unique population.

An internal performance assessment of CancerGene Connect: an electronic tool to streamline, measure and improve the genetic counseling process.

CancerGene Connect (CGC) is a web-based program that combines the collection of family and medical history, cancer risk assessment, psychosocial assessment, report templates, a result tracking system, and a patient follow up system. The performance of CGC was assessed in several ways: pre-appointment completion data analyzed for demographic and health variables; a time study to assess overall time per case and to compare the data entry by the genetic counselor compared to the patient, and a measured quality assessment of the program via observation and interview of patients. Prior to their appointment, 52.3% of 2,414 patients completed the online patient questionnaire section of CGC. There were significant differences in completion rates among racial and ethnic groups. County hospital patients were less likely to complete the questionnaire than insured patients (p < 0.0001); and likewise uninsured patients and patients with Medicare/Medicaid were less likely to complete the questionnaire than private patients (p < 0.0001). The average genetic counseling time per case was 82 min, with no significant differences whether the counselor or the patient completed CGC. CGC reduces genetic counselor time by approximately 14-46% compared to average time per case using traditional risk assessment and documentation methods previously reported. All surveyed users felt the questionnaire was easy to understand. CGC is an effective tool that streamlines workflow, and provides a standardized data collection tool that can be used to evaluate and improve the genetic counseling process.

The Role of Genetic Counselors for Patients with Familial Hypercholesterolemia

Familial hypercholesterolemia (FH) is the most common inherited cause of premature coronary heart disease and leads to significant morbidity and mortality. Genetic counselors are specialized health care professionals with advanced degrees and training in both medical genetics and psychosocial counseling. FH patients and their families require focused education regarding the heritable nature of their disease, the risk to family members, the necessity of cascade screening, and the availability of genetic testing. Patients and families may also benefit from additional services genetic counselors provide, such as psychosocial support and other resources. All of these services are well-established components of the genetic counseling process. Therefore, genetic counselors can serve as a valuable resource to FH patients, their families, and the multidisciplinary team of clinicians providing care for these patients.

Distinct communication patterns during genetic counseling for late-onset Alzheimer's risk assessment

ObjectiveTo identify and characterize patient–provider communication patterns during disclosure of Alzheimer's disease genetic susceptibility test results and to assess whether these patterns reflect differing models of genetic counseling. Methods262 genetic counseling session audio-recordings were coded using the Roter Interactional Analysis System. Cluster analysis was used to distinguish communication patterns. Bivariate analyses were used to identify characteristics associated with the patterns. ResultsThree patterns were identified: Biomedical-Provider-Teaching (40%), Biomedical-Patient-Driven (34.4%), and Psychosocial-Patient-Centered (26%). Psychosocial-Patient-Centered and Biomedical-Provider-Teaching sessions included more female participants while the Biomedical-Patient-Driven sessions included more male participants (p=0.04). ConclusionCommunication patterns observed reflected the teaching model primarily, with genetic counseling models less frequently used. The emphasis on biomedical communication may potentially be at the expense of more patient-centered approaches. Practice implicationsTo deliver more patient-centered care, providers may need to better balance the ratio of verbal exchange with their patients, as well as their educational and psychosocial discussions. The delineation of these patterns provides insights into the genetic counseling process that can be used to improve the delivery of genetic counseling care. These results can also be used in future research designed to study the association between patient-centered genetic counseling communication and improved patient outcomes.

African American women's limited knowledge and experiences with genetic counseling for hereditary breast cancer.

Genetic counseling and testing for hereditary breast cancer have the potential benefit of early detection and early interventions in African American women. However, African American women have low use of these services compared to White women. We conducted two focus groups with African American women diagnosed with breast cancer (affected group, n = 13) and women with at least one first-degree relative with breast/ovarian cancer (unaffected group, n = 8). A content analysis approach was employed to analyze interview data. Breast cancer survivors had more knowledge about genetic counseling and testing than participants who were unaffected with cancer. However, knowledge about genetic counseling was limited in both groups. Barriers to pursuing genetic counseling and testing included poor understanding of the genetic counseling and testing process, fear of carrying the mutation, concerns about discrimination, and cost. Motivators to participate in genetic counseling and testing included desire to help family members, insurance coverage, and potential of benefiting the larger African American community. Education efforts are needed to increase genetic counseling and testing awareness in the African American community.

From genetic counseling to “genomic counseling”

Genetic counseling is “the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease.” Traditionally, this process includes collecting and interpreting the family and medical history, risk assessment, a comprehensive educational process for potential genetic testing, informed consent, and psychosocial assessment and support (National Society of Genetic Counselors' Definition Task Force et al. 2006). While genetic counseling falls within the scope of many health care professionals, clinical geneticists (physicians) and masters level genetic counselors have been working in the United States for more than 40 years, providing genetic counseling primarily for single-gene conditions. Debate about what “genomic counseling” will include and who will practice it has been fueled by the transition from single-gene focused genetic counseling and testing to a full genomic medicine approach. The routine incorporation of genomic medicine will likely induce differences in the scope, approach and process of genetic counseling (Table ​(Table1).1). In this commentary, I will discuss the several areas where practice will likely change as we move toward “genomic” counseling, with a focus on the unique skills and roles that genetic counselors and clinical geneticists provide. Table 1 Changes that will impact the transition to “genomic counseling.”

Specific Psychosocial Issues of Individuals Undergoing Genetic Counseling for Cancer – A Literature Review

Approximately 25% of individuals undergoing genetic counseling for cancer experiences clinically relevant levels of distress, anxiety and/or depression. However, these general psychological outcomes that are used in many studies do not provide detailed information on the specific psychosocial problems experienced by counselees. The aim of this review was to investigate the specific psychosocial issues encountered by individuals undergoing genetic counseling for cancer, and to identify overarching themes across these issues. A literature search was performed, using four electronic databases (PubMed, PsychInfo, CINAHL and Embase). Papers published between January 2000 and January 2013 were selected using combinations, and related indexing terms of the keywords: 'genetic counseling', 'psychology' and 'cancer'. In total, 25 articles met our inclusion criteria. We identified the specific issues addressed by these papers, and used meta-ethnography to identify the following six overarching themes: coping with cancer risk, practical issues, family issues, children-related issues, living with cancer, and emotions. A large overlap in the specific issues and themes was found between these studies, suggesting that research on specific psychosocial problems within genetic counseling has reached a point of saturation. As a next step, efforts should be made to detect and monitor these problems of counselees at an early stage within the genetic counseling process.

E-Learning of Genetic Counseling and Basic Genetics for Psychologists in Brazil

This study describes the development of a learning process of genetic counseling and basic genetics using an e-learning model and its application to a group of psychologists in the state of Parana in southern Brazil. The aim was to analyze the impact on the increase of knowledge in the presented subjects and the possibility of applying this project on a larger scale. The results of two observations were compared. The observations consisted of scores on the same exams, applied before and after taking the course. Results indicated that the remote education process is indeed a viable alternative for genetic counseling education and is validated for application in large scale together with Centers for Family Health Care Assistance of the Brazilian Ministry of Health Care.

Overview of Five-Years of Experience Performing Non-Invasive Fetal Sex Assessment in Maternal Blood.

Since the discovery of the presence of fetal DNA in maternal blood, non-invasive fetal sex determination has been the test most widely translated into clinical practice. To date there is no agreement between the different laboratories performing such tests in relation to which is the best protocol. As a consequence there are almost as many protocols as laboratories offering the service, using different methodologies and thus obtaining different diagnostic accuracies. By the end of 2007, after a validation study performed in 316 maternal samples collected between the 5th and 12th week of gestation, the fetal sex determination was incorporated into clinical practice in our Service. The test is performed in the first trimester of pregnancy, and it is offered as part of the genetic counseling process for couples at risk of X-linked disorders. As a general rule and in order to avoid misdiagnosis, two samples at different gestational ages are tested per patient. The analysis is performed by the study of the SRY gene by RT-PCR. Two hundred and twenty six pregnancies have been tested so far in these 5 years. Neither false positives nor false negatives diagnoses have been registered, thus giving a diagnostic accuracy of 100%.

Communicating cancer risk within an African context: Experiences, disclosure patterns and uptake rates following genetic testing for Lynch syndrome

ObjectiveData pertaining to Lynch syndrome within a developing country are sparse. This study explored the emotional reaction to a mutation-positive test result among a group of individuals from South Africa. As genetic information is not only limited to the individual but extends to the biological family, communication patterns and uptake of testing among at-risk family members was also investigated. MethodsEighty individuals participated in this qualitative interview study. ResultsEight emotional reactions were observed, of which two were of particular concern: (1) secrecy due to disbelief and (2) interpretation of a mutation-positive result as a cancer diagnosis. Disclosure rates of personal genetic test results were high to family members, but low to general healthcare providers. Disclosing the test result was not always followed by a discussion of implications of the genetic information or availability of predictive testing for at-risk family members. The uptake rate of predictive testing among the participants’ siblings and children was 97% and 73.6%, respectively. ConclusionAwareness of concerning emotional reactions following the delivery of a genetic test result and insight into disclosure patterns, especially the information that is not communicated, will prove beneficial in improving the effectiveness of counselling and management in Lynch syndrome families. Practice implicationsImplementation of these findings into the PT programme will have a positive effect on the genetic counseling process.

What Counts as Effective Genetic Counselling for Presymptomatic Testing in Late‐Onset Disorders? A Study of the Consultand's Perspective

Genetic counselling must be offered in the context of presymptomatic testing (PST) for severe late-onset diseases; however, effective genetic counselling is not well defined, and measurement tools that allow a systematic evaluation of genetic practice are still not available. The aims of this qualitative study were to (1) recognize relevant aspects across the whole process of genetic counselling in PST for late-onset neurodegenerative disorders that might indicate effective practice from the consultand's perspective; and (2) analyse aspects of current protocols of counselling that might be relevant for successful practice. We interviewed 22 consultands undergoing PST for late-onset neurological disorders (Huntington disease, spinocerebellar ataxias and familial amyloid polyneuropathy ATTRV30M) in the three major counselling services for these diseases in Portugal. The main themes emerging from the content analysis were (1) the consultand's general assessment of the PST process in genetic services; (2) appropriateness and adaptation of the protocol to the consultand's personal expectations and needs; and (3) consultand's experience of the decision-making process and the role of engagement and counselling skills of the counsellor. Participants also provided a set of recommendations and constructive criticisms relating to the length of the protocol, the time gap between consultations and the way results were delivered. These issues and the construction of the relationship between counsellor and counselee should be further investigated and used for the improvement of current protocols of counselling.

Investigation of the A1555G mutation in mitochondrial DNA (MT-RNR1) in groups of Brazilian individuals with nonsyndromic deafness and normal-hearing

BACKGROUND:Mutations of mitochondrial DNA were described into two genes: The mitochondrially encoded 12S RNA (MT-RNR1) and the mitochondrially encoded tRNA serineucn (MT-TS1). The A1555G mutation in MT-RNR1 gene is a frequent cause of deafness in different countries.AIM:The aim of this work was to investigate the frequency of the A1555G mutation in the MT-RNR1 gene in the mitochondrial DNA in Brazilians individuals with nonsyndromic deafness, and listeners.MATERIALS AND METHODS:DNA samples were submitted to polymerase chain reaction and to posterior digestion with the Hae III enzyme.RESULTS:Seventy eight (78) DNA samples of deaf individuals were analyzed; 75 showed normality in the region investigated, two samples (2.5%) showed the T1291C substitution, which is not related to the cause of deafness, and one sample (1.3%) showed the A1555G mutation. Among the 70 non-impaired individuals no A1555G mutation or T1291C substitution was found.CONCLUSION:We can affirm that A1555G mutation is not prevalent, or it must be very rare in normal-hearing subjects in the State of Paraná, the south region of Brazil. The A1555G mutation frequency (1.3%) found in individual with nonsyndromic deafness is similar to those found in other populations, with nonsyndromic deafness. Consequently, it should be examined in deafness diagnosis. The investigation of the A1555G mutation can contribute towards the determination of the nonsyndromic deafness etiology, hence, contributing to the correct genetic counseling process.

Evaluating Genetic Counseling for Individuals With Schizophrenia in the Molecular Age

Recent advances in schizophrenia genetics are shedding new light on etiopathogenesis, but issues germane to translation of findings into clinical practice are relatively understudied. We assessed the need for, and efficacy of, a contemporary genetic counseling protocol for individuals with schizophrenia. After characterizing rare copy number variation in a cohort of adults with schizophrenia, we recruited subjects from the majority of individuals who had no clinically relevant structural genetic variant. We used a pre-post study design with longitudinal follow-up to assess both the profile of need and the impact of general genetic counseling on key knowledge-based and psychological factors. Thirty-nine (60.0%) of 65 patients approached actively expressed an interest in the study. At baseline, participants (n = 25) tended to overestimate the risk of familial recurrence of schizophrenia, express considerable concern related to this perceived risk, endorse myths about schizophrenia etiology, and blame themselves for their illness. Postcounseling, there was a significant improvement in understanding of the empiric recurrence risk (P = .0090), accompanied by a decrease in associated concern (P = .0020). There were also significant gains in subjective (P = .0007) and objective (P = .0103) knowledge, and reductions in internalized stigma (P = .0111) and self-blame (P = .0401). Satisfaction with genetic counseling, including endorsement of the need for such counseling (86.4%), was high. These results provide initial evidence of need for, and efficacy of, genetic counseling for individuals with schizophrenia. The findings may help facilitate development of a contemporary genetic counseling process that could optimize outcomes in the nascent field of evidence-based psychiatric genetic counseling.

When the Topic is You: Genetic Counselor Responses to Prenatal Patients’ Requests for Self-Disclosure

A limited amount of research indicates patient requests play a major role in genetic counselors' self-disclosure decisions and that disclosure and non-disclosure responses to patient requests may differentially affect genetic counseling processes. Studies further suggest patient requests may be more common in prenatal settings, particularly when counselors are pregnant. Empirical evidence is limited however, concerning the nature of patient requests. This study explored genetic counselors' experiences of prenatal patients' requests for self-disclosure. Four major research questions were: (1) What types of questions do prenatal patients ask that invite self-disclosure?; (2) Do pregnant genetic counselors have unique experiences with prenatal patient disclosure requests?; (3) How do genetic counselors typically respond to disclosure requests?; and (4) What strategies are effective and ineffective in responding to disclosure requests? One hundred seventy-six genetic counselors completed an online survey and 40 also participated in telephone interviews. Inductive analysis of 21 interviews revealed patient questions vary, although questions about counselor demographics are most common, and patients are more likely to ask pregnant counselors questions about their personal pregnancy decisions. Participants reported greater discomfort with self-disclosure requests during pregnancy, yet also disclosing more frequently during pregnancy. Counselor responses included personal self-disclosure, professional self-disclosure, redirection, and declining to disclose. Factors perceived as influencing disclosure included: topic, patient motivations, timing of request, quality of counseling relationship, patient characteristics, and ethical/legal responsibilities. Disclosure practices changed over time for most counselors. Additional findings, practice implications, and research recommendations are discussed.

Talking to Parents About Genetics

Talking to Parents About Genetics

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-GENEca 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.

Genetic counselors: Your partners in clinical practice

As our understanding of the human genome has grown, so too has the need for health care providers who can help patients and families understand the implications of these new discoveries for their health care. Increasingly, genetic counselors are working in partnership with physicians to provide a continuum of care from risk assessment to diagnosis. In this article, we explain the process of genetic counseling and its value for patients who have a personal or family history of a hereditary condition.

New Approaches to Genetic Counseling and Testing for Alzheimer’s Disease and Frontotemporal Degeneration

The discovery of new autosomal dominant and susceptibility genes for Alzheimer's disease (AD) and frontotemporal degeneration (FTD) is revealing important new information about the neurodegenerative process and the risk for acquiring these diseases. It is becoming increasingly clear that both the mechanisms that drive these diseases and their phenotypes overlap. New technologies will assist access to genetic testing but may increase difficulty with genetic test interpretation. Thus, the process of genetic counseling and testing for these diseases is becoming more complex. This article will review current knowledge on the genetics of AD and FTD and suggest clinical guidelines for helping families to navigate through these complexities. The implications of future discoveries will be offered.

Hereditary Hearing Loss: Genetic Counselling

The aim of this review is to provide an updated overview of hereditary hearing loss, with special attention to the etiological diagnosis of sensorineural hearing loss, the genes most frequently mutated in our environment, the techniques available for their analysis and the clinical implications of genetic diagnosis.More than 60% of childhood sensorineural hearing loss is genetic. In adults, the percentage of hereditary hearing loss is unknown. Genetic testing is the highest yielding test for evaluating patients with sensorineural hearing loss. The process of genetic counselling is intended to inform patients and their families of the medical, psychological, and familial implications of genetic diseases, as well as the risks, benefits and limitations of genetic testing. The implementation of any genetic analysis must be always preceded by an appropriate genetic counselling process.