Genetic Counseling Practice in Next Generation Sequencing Research: Implications for the Ethical Oversight of the Informed Consent Process

The potential for next generation sequencing research (NGS) to generate individual genetic results could have implications for the informed consent process and the provision of genetic counseling. We undertook a content analysis of informed consent templates and guidelines produced by Canadian institutional review boards, purposively sampling documents used by researchers to obtain consent from participants in genetics studies. Our goal was to examine the extent to which the informed consent documents addressed genetic counseling and the return of individual genetic results. Our analysis reveals that the majority of informed consent documents did not mention genetic counseling while several did not mention the return of results. We found differences in the ways in which documents addressed availability of counseling, eligibility criteria for referral to a genetic counselor, genetic counselor involvement, provision of services to family members of participants and incidental findings. From an ethical standpoint, consent documents should provide appropriate information so that participants may make an informed decision about their participation in research. The need to ensure adequate counseling for study populations in an NGS research context will necessarily involve adapting values that underlie care in genetic counseling practice. If the interests of research participants are to be truly promoted, the drafting and review of informed consent documents should give proper due to genetic counseling.     

Essential Elements of Genetic Cancer Risk Assessment, Counseling, and Testing: Updated Recommendations of the National Society of Genetic Counselors

Updated from their original publication in 2004, these cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of counseling at-risk individuals through genetic cancer risk assessment with or without genetic testing. They were developed by members of the Practice Issues Subcommittee of the National Society of Genetic Counselors Familial Cancer Risk Counseling Special Interest Group. The information contained in this document is derived from extensive review of the current literature on cancer genetic risk assessment and counseling as well as the personal expertise of genetic counselors specializing in cancer genetics. The recommendations are intended to provide information about the process of genetic counseling and risk assessment for hereditary cancer disorders rather than specific information about individual syndromes. Essential components include the intake, cancer risk assessment, genetic testing for an inherited cancer syndrome, informed consent, disclosure of genetic test results, and psychosocial assessment. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider's professional judgment based on the clinical circumstances of a client.     

Genetic Cancer Risk Assessment and Counseling: Recommendations of the National Society of Genetic Counselors

These cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of identifying at-risk individuals through cancer risk assessment with or without genetic testing. They were developed by members of the Practice Issues Subcommittee of the National Society of Genetic Counselors Cancer Genetic Counseling Special Interest Group. The information contained in this document is derived from extensive review of the current literature on cancer genetic risk assessment and counseling as well as the personal expertise of genetic counselors specializing in cancer genetics. The recommendations are intended to provide information about the process of genetic counseling and risk assessment for hereditary cancer disorders rather than specific information about individual syndromes. Key components include the intake (medical and family histories), psychosocial assessment (assessment of risk perception), cancer risk assessment (determination and communication of risk), molecular testing for hereditary cancer syndromes (regulations, informed consent, and counseling process), and follow-up considerations. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider's professional judgment based on the clinical circumstances of a client.     

Review of Commercially Available Epilepsy Genetic Panels

Next generation sequencing panels have revolutionized the diagnostic approach to patients with epilepsy. There are several commercial epilepsy panels available. We assessed the list of genes tested and consent forms for epilepsy panels available at seven laboratories. The panels varied in the number of genes included (70–465 genes). In some panels, genes not currently associated with epilepsy were included (up to 4 % of panel content). The panels also included genes for lysosomal storage disorders (6–12 %), congenital disorders of glycosylation (0–8.5 %), metabolic disorders (3.5–34 %), neurological syndromes (18–43 %) and multisystemic genetic syndromes (6.4–21 %). Informed consents differed significantly between laboratories ranging from basic information about genetic testing and possible results to information about insurance, genetic counseling and familial testing, and incidental findings.Our findings suggest that it is important to consider the range of genes offered on epilepsy panels and their predicted phenotypes in an effort toward improving the informed consent process.     

Operationalizing the Reciprocal Engagement Model of Genetic Counseling Practice: a Framework for the Scalable Delivery of Genomic Counseling and Testing

With the advent of widespread genomic testing for diagnostic indications and disease risk assessment, there is increased need to optimize genetic counseling services to support the scalable delivery of precision medicine. Here, we describe how we operationalized the reciprocal engagement model of genetic counseling practice to develop a framework of counseling components and strategies for the delivery of genomic results. This framework was constructed based upon qualitative research with patients receiving genomic counseling following online receipt of potentially actionable complex disease and pharmacogenomics reports. Consultation with a transdisciplinary group of investigators, including practicing genetic counselors, was sought to ensure broad scope and applicability of these strategies for use with any large-scale genomic testing effort. We preserve the provision of pre-test education and informed consent as established in Mendelian/single-gene disease genetic counseling practice. Following receipt of genomic results, patients are afforded the opportunity to tailor the counseling agenda by selecting the specific test results they wish to discuss, specifying questions for discussion, and indicating their preference for counseling modality. The genetic counselor uses these patient preferences to set the genomic counseling session and to personalize result communication and risk reduction recommendations. Tailored visual aids and result summary reports divide areas of risk (genetic variant, family history, lifestyle) for each disease to facilitate discussion of multiple disease risks. Post-counseling, session summary reports are actively routed to both the patient and their physician team to encourage review and follow-up. Given the breadth of genomic information potentially resulting from genomic testing, this framework is put forth as a starting point to meet the need for scalable genetic counseling services in the delivery of precision medicine.     

Audit of the Informed Consent Process as a Part of a Clinical Research Quality Assurance Program

Audits of the informed consent process are a key element of a clinical research quality assurance program. A systematic approach to such audits has not been described in the literature. In this paper we describe two components of the audit. The first is the audit of the informed consent document to verify adherence with federal regulations. The second component is comprised of the audit of the informed consent conference, with emphasis on a real time review of the appropriate communication of the key elements of the informed consent. Quality measures may include preparation of an informed consent history log, notes to accompany the informed consent, the use of an informed consent feedback tool, and the use of institutional surveys to assess comprehension of the informed consent process.     

Client Perceptions of the Impact of Genetic Counseling: An Exploratory Study

Twenty-eight former genetic counseling clients seen at a major Midwestern university were recruited to be interviewed about their genetic counseling experiences, including most and least helpful aspects, what they learned, how this information impacted their decision-making, and their perceptions of their genetic counselors' behaviors. Responses were inductively analyzed, and several themes were identified, including: Clients sought genetic counseling to obtain genetic-medical information; a majority accurately recalled this information; genetic counseling influenced decisions for about 50% of the sample; decision-making was affected by several extra-session factors; a majority experienced distress during the session; most perceived genetic counselor responses as nondirective and liked this approach; counselor behaviors regarded as directive involved discussion of pregnancy termination; participants disagreed about the need for and provision of genetic counselor support; most regarded the session as helpful and stated that they would seek genetic counseling again. Suggestions for addressing these issues in practice and research are given.     

Genetic research,adolescents, and informed consent

The participation of adolescents in genetic research engenders unusual problems concerning the nature of their informed consent. In this study we analyze 70 consent documents collected from genetics investigators in the United States who conduct research with children and adolescents. We find that many consent documents do not reflect either the current or the developing ethical and legal standards for research with adolescents and that in many cases the documents are simply confusing or unclear. We make recommendations for change to reflect more adequately the changing perspective concerning the autonomous decision-making capacity of adolescents.     

Talking about Disability in Prenatal Genetic Counseling: A Report of Two Interactive Workshops

Women are commonly offered testing in pregnancy to determine the health of their baby. An important component of informed decision-making about prenatal testing is provision of relevant, accurate, meaningful information concerning the conditions that are being tested for—many of which, such as Down syndrome, are associated with a varying degree of physical and intellectual disability. A range of health professionals, including genetic counselors, may provide information and support throughout the testing process, but available data suggest that discussion of disability is frequently absent or limited. To investigate genetic counselors’ perceptions of this situation and identify potential barriers to discussion we facilitated interactive workshops at the 2007 National Society of Genetic Counselors Annual Education Conference (NSGC) and the 2008 European Meeting on Psychosocial Aspects of Genetics (EMPAG). Working groups identified relevant psychosocial issues and impediments to discussion (NSGC) or used a two-part scenario to promote discussion (EMPAG) and reported findings in notes and a closing plenary discussion. Inductive content analysis revealed that participants considered informed decision making to be a major reason for presenting information about disabilities in prenatal genetic counseling and endorsed the value of including information about daily life with Down syndrome and other disabilities. However, they identified three broad types of impediments to such discussion: counseling issues concerning the most appropriate manner to discuss disability under the complex circumstances of prenatal genetic counseling, less than optimal training and experience in addressing these issues, and perceived limitations in the participants’ knowledge and understanding of life with disability. Our analysis of the responses from the workshop participants and additional thoughts on these issues have led us to develop recommendations for further research, training and clinical practice.     

How informed is online informed consent?

We examined participants' reading and recall of informed consent documents presented via paper or computer. Within each presentation medium, we presented the document as a continuous or paginated document to simulate common computer and paper presentation formats. Participants took slightly longer to read paginated and computer informed consent documents and recalled slightly more information from the paginated documents. We concluded that obtaining informed consent online is not substantially different than obtaining it via paper presentation. We also provide suggestions for improving informed consent--in both face-to-face and online experiments.     

“Testing Times,Challenging Choices”: An Australian Study of Prenatal Genetic Counseling

In many countries pregnant women deemed to be at increased risk for fetal anomaly following a screening test may attend a genetic counseling session to receive information and support in decision-making about subsequent diagnostic testing. This paper presents findings from an Australian study that explored 21 prenatal genetic counseling sessions conducted by five different genetic counselors. All were attended by pregnant women who had received an increased risk result from a maternal serum screening (MSS) test and who were offered a diagnostic test. Qualitative methods were used to analyze the content and structure of sessions and explore the counseling interactions. Findings from this cohort demonstrate that, within these prenatal genetic counseling sessions, counselor dialogue predominated. Overall the sessions were characterized by: a) an emphasis on information-giving b) a lack of dialogue about relevant sensitive topics such as disability and abortion. Arguably, this resulted in missed opportunities for client deliberation and informed decision-making. These findings have implications for the training and practice of genetic counselors and all healthcare professionals who communicate with women about prenatal testing.     

Requirements and Implementation of Maintaining Patient Records

Summary

This article will discuss the need for psychotherapists to document the statements of patients, the techniques they use, and other aspects of their work to avoid ethical and legal problems. Elements of session notes and written informed consent will be identified. No informed consent can legitimize some actions and they will be addressed.     

Long-term Evaluation of Genetic Counseling Following False-Positive Newborn Screen for Cystic Fibrosis

This cross-sectional mixed method study was a long-term follow-up evaluation of families who participated in an earlier survey of their understanding of cystic fibrosis (CF) genetics and their infants’ false-positive CF newborn screening (NBS) results. Thirty-seven of the original 138 parents participated in the follow-up telephone survey. Results showed parents who received genetic counseling at the time of their infants’ diagnostic sweat tests had significantly higher long-term retention of genetic knowledge than those without genetic counseling. However, both groups still had misconceptions and lacked accurate information about the actual risk associated with being a CF carrier. Most parents either had already informed (65%) or planned to inform (19%) their children about the child’s carrier status. Mean child age at the time of disclosure was 9.2 years. Situational prompts were the most common reasons for informing their children. Neither parental knowledge, medical literacy, nor parental education predicted whether parents informed their children about their carrier status. False-positive NBS results for CF were not associated with parental perceptions of child vulnerability 11–14 years after the testing. Although the sample from this study was small, these findings underscore the benefits of genetic counseling at the time of the diagnostic sweat test and offer information that can assist parents in talking with their children about the implications of having one CFTR mutation.     

Motivation to Pursue Genetic Testing in Individuals with a Personal or Family History of Cardiac Events or Sudden Cardiac Death

Genetic testing is becoming increasingly available for cardiac channelopathies, such as long QT syndrome and Brugada syndrome, which can lead to sudden cardiac death. Test results can be used to shape an individual’s medical management and to identify at-risk family members. In our qualitative study, all participants had a personal or family history of a diagnosed cardiac arrhythmia syndrome or sudden cardiac death. Open-ended interviews were conducted individually and in focus groups. Interviews were audio recorded, transcribed verbatim, and analyzed using a qualitative grounded-theory approach. Of 50 participants, 37 described their motivations for pursuing genetic testing for long QT syndrome or another cardiac channelopathy. Participants’ motivations included: to find an explanation for a family member’s sudden death, to relieve uncertainty regarding a diagnosis, to guide future medical management, to allay concern about children or other family members, and to comply with recommendations of physicians or family members. Perceived reasons not to pursue genetic testing included denial, fear, and lack of information. The genetic counseling and informed consent process can be enhanced by understanding and addressing an individual’s internal and external motivations either for or against pursuing genetic testing.     

Grounded Theory in Genetic Counseling Research

The practice of genetic counseling is in need of evidence-based theoretical frameworks. Although strategies used in genetic counseling are increasingly evidence-based, the field of genetic counseling does not have a generally accepted theoretical basis for development of therapeutic interventions. We know very little about (1) what actually happens in genetic counseling and (2) the impact it has on clients and their families. A number of researchers have used a variety of approaches in an attempt to introduce some theoretical basis for genetic counseling research and practice. Other workers have used experience in their clinical practice to write theoretically about the kinds of processes that might be going on in and around genetic counseling. However, there are few studies to date, which have attempted to build theory modeling the psychosocial processes that take place in and around the genetic counseling clinic using empirical data. This paper describes a methodology (grounded theory) that is designed specifically to build theory about psychosocial processes from a strong evidence base, and explains how it can contribute to the development of practice in genetic counseling.     

Genetic Counseling as a Tool for Type 2 Diabetes Prevention: A Genetic Counseling Framework for Common Polygenetic Disorders

Advances in genetic epidemiology have increased understanding of common, polygenic preventable diseases such as type 2 diabetes. As genetic risk testing based on this knowledge moves into clinical practice, we propose that genetic counselors will need to expand their roles and adapt traditional counseling techniques for this new patient set. In this paper, we present a genetic counseling intervention developed for a clinical trial [Genetic Counseling/Lifestyle Change for Diabetes Prevention, ClinicalTrials.gov identifier: NCT01034319] designed to motivate behavioral changes for diabetes prevention. Seventy-two phenotypically high-risk participants received counseling that included their diabetes genetic risk score, general education about diabetes risk factors, and encouragement to participate in a diabetes prevention program. Using two validated genetic counseling scales, participants reported favorable perceived control and satisfaction with the counseling session. Our intervention represents one model for applying traditional genetic counseling principles to risk testing for polygenetic, preventable diseases, such as type 2 diabetes.     

Re-conceptualizing Risk in Genetic Counseling: Implications for Clinical Practice

Risk communication is an important component of genetic counseling. However, many authors have noted that after genetic counseling, subjective risk frequently does not match the objective risk provided by the counselor. This inevitably leads to the conclusion that the risk communication process was not “effective”. There has been much discussion about how this problem can be better addressed, such that our clients recall numeric risks more accurately after genetic counseling. This article draws on the risk and probability literature from other fields (including psychology, economics, philosophy and climate change) to deconstruct the concepts of “risk” and risk perception to attempt to expand upon and develop thought and discussion about and investigation of the risk communication process in genetic counseling.     

Interest and Beliefs About BRCA Genetic Counseling Among At-Risk Latinas in New York City

Background: Latinas are less likely to use genetic services (counseling and testing) for hereditary breast and/or ovarian cancer risk compared to other ethnic groups. Meanwhile, little is known about barriers to genetic counseling among Latinas at increased risk of inherited breast cancer. Methods: A two-phase pilot study was conducted to examine interest, barriers and beliefs about BRCA genetic counseling among at-risk Latinas in New York City and explore the potential for developing a culturally-tailored narrative educational tool for use in future studies. Phase 1 included quantitative telephone interviews (N = 15) with bilingual participants with a personal diagnosis at a young age and/or family history of breast and/or ovarian cancer. Quantitative results informed development of a narrative prototype educational presentation viewed by a subset of participants (N = 10) in Phase 2 focus groups. Results: Despite barriers, including lack of awareness/knowledge, concerns related to learning cancer risks of family members, and concerns about cost/health insurance, participants reported positive attitudes, beliefs and interest in learning about BRCA genetic counseling. Further, significant increases in knowledge were demonstrated from pre-post presentation (p = 0.04). Conclusion: There is an unmet need to educate at-risk Latinas about BRCA genetic counseling. Culturally-tailored educational materials including narratives may increase knowledge about BRCA genetic counseling among this underserved group. The effectiveness of these approaches should be tested in future research with larger samples.     

Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis: the Position of the National Society of Genetic Counselors

The 1997 discovery of free fetal DNA in maternal plasma launched clinical researchers’ efforts to establish a reliable method for non-invasive prenatal testing for fetal genetic conditions. Various methods, including, but not limited to, massively parallel sequencing (MPS) and selective analysis of cell-free fetal DNA in maternal plasma, have recently been developed as highly sensitive and specific noninvasive screening tools for common fetal chromosome aneuploidies. Incorporating these new noninvasive technologies into clinical practice will impact the current prenatal screening paradigm for fetal aneuploidy, in which genetic counseling plays an integral role. The National Society of Genetic Counselors (NSGC) currently supports Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis (NIPT/NIPD) as an option for patients whose pregnancies are considered to be at an increased risk for certain chromosome abnormalities. NSGC urges that NIPT/NIPD only be offered in the context of informed consent, education, and counseling by a qualified provider, such as a certified genetic counselor. Patients whose NIPT/NIPD results are abnormal, or who have other factors suggestive of a chromosome abnormality, should receive genetic counseling and be given the option of standard confirmatory diagnostic testing.     

Factors Influencing Perceptions of Breast Cancer Genetic Counseling among Women in an Urban Health Care System

The study assessed perceptions of breast cancer genetic counseling. Focus groups were conducted with twenty women (ages < = 50 years) in a Midwestern, urban health system identified as at above average risk of developing hereditary breast cancer and referred for breast cancer genetic counseling following mammography. All participants associated the words “breast cancer” with fear. African American women who received breast cancer genetic counseling may have channeled their fear into increased vigilance related to breast health. African American women who did not receive breast cancer genetic counseling were most knowledgeable about it. In contrast, Caucasian women who did not receive it reported uncertainty about the role of genetic counseling and testing in assessing breast cancer risk, mistrust in medical professionals, and lack of trust in the accuracy of genetic tests. The results could be used to help develop interventions to improve informed decision-making regarding breast cancer genetic counseling.