A survey of reimbursement for cystic fibrosis carrier testing

To assess the current status of reimbursement for cystic fibrosis (CF) carrier testing, we surveyed individuals tested in the Mid-Atlantic region. Results show that CF testing was covered by insurance in part or in full for greater than 50% of respondents. The test was nearly always covered when performed during pregnancy because of a positive family history, but it was also covered for more than 50% of pregnant respondents with a negative family history. There were no significant differences in coverage by type of insurance. Many respondents needed to supply additional information about the testing to their insurance company before a coverage decision could be made. Before population-based CF screening programs are initiated, more data are needed on insurance reimbursement for testing, especially when performed pre-conceptually.     

Can We Make Assumptions About the Psychosocial Impact of Living as a Carrier,Based on Studies Assessing the Effects of Carrier Testing?

Receiving the results of genetic carrier testing may have an impact on the psychosocial health of the individual. Numerous studies have been conducted to assess the psychosocial effects of carrier status for a range of conditions. To systematically review research focused on the psychological and social impact of carrier testing on individuals in order to identify factors affecting the impact of carrier testing results, and discern areas where further research is needed. Twenty relevant papers meeting criteria for inclusion in this review were found. The main themes identified across these studies included: anxiety, guilt and stigmatization, effect on family relationships, effect on self image, active coping mechanisms and reproductive issues. Variables related to the psychosocial effect of carrier testing included whether the carrier has an affected child, mode of inheritance, genetic counseling, and life stage. A key finding concerns carriers who already have an affected child; they are more likely to experience guilt and self-blame, and change their reproductive plans compared to carriers without affected children. Additionally, some participants reported clinical features of the disorder for which they were being tested. Genetic counselors may erroneously assume that parents with affected children are aware of their own carrier status in the absence of testing, and they may offer inadequate support. Additionally, counselors should attempt to address patient misconceptions related to their health and carrier status.     

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.     

Patient Motivation, Satisfaction, and Coping in Genetic Counseling and Testing for BRCA1 and BRCA2

Women with a strong family history of breast and/or ovarian cancer can now have genetic testing, that may identify mutations associated with increased cancer predisposition. Within the context of a clinical trial evaluating printed educational materials, we examined motivation, satisfaction, coping, and perceptions of genetic counseling and testing among 159 women who underwent pretest counseling and made a testing decision. Ninety-six percent of the participants elected to have BRCA1/2 testing. When making a decision about genetic testing, study participants were concerned less about the potential negative effects that could result from testing than the potential benefits. After counseling, participants said that they felt better able to make decisions that were right for them and that their questions and concerns were adequately addressed during the session. Ninety-five percent of the women were satisfied with their test decision. Participants used a range of strategies to cope with thoughts and feelings about cancer and/or genetic testing immediately following test decision. Results suggest that the genetic counseling session helped women make decisions about testing for BRCA1 and BRCA2, even in the setting of a trial in which all women also received detailed educational materials. Further, the results indicate that future research focusing on perceptions of risks and benefits of testing and of coping strategies immediately following test decision may be warranted.     

Women’s Attitudes Toward Testing for Fragile X Carrier Status: A Qualitative Analysis

Fragile X syndrome (FXS) is primarily due to a repeat expansion mutation found in the FMR1 X-linked gene. We have conducted a qualitative analysis of responses from women concerning their attitudes toward testing for carrier status of the fragile X mutation among reproductive-age women. We obtained responses from focus groups including women with and without FXS in their families. We found the following themes: (1) mothers of children with FXS have difficulty formulating their opinions on population screening because of their unique experiences surrounding their own carrier diagnosis and their relationship with their children with FXS, (2) the motivation for carrier testing and need for information differ by family history of FXS and parental status, and (3) the timing of carrier testing with respect to a woman’s life stage dictates whether carrier information will be viewed as beneficial or detrimental. There was evidence that non-carrier women from the general population would be wholly unprepared for positive carrier results. These findings have significant implications for genetic counseling as well as for population screening.     

The Effectiveness of Family History Questionnaires in Cancer Genetic Counseling

The number of individuals receiving genetic counseling for hereditary breast and ovarian cancer syndrome has steadily risen. To triage patients for genetic counseling and to help reduce the amount of time needed by a genetic counselor in direct patient contact, many clinics have implemented the use of family history questionnaires. Although such questionnaires are widely used, scant literature exists evaluating their effectiveness. This article explores the extent to which family history questionnaires are being used in Ontario and addresses the utility of such questionnaires in one familial cancer clinic. By comparing the pedigrees created from questionnaires to those updated during genetic counseling, the accuracy and effectiveness of the questionnaires was explored. Of 121 families recruited into the study, 12% acquired changes to their pedigree that led to a revised probability estimate for having a BRCA1 or BRCA2 mutation and 5% acquired changes that altered their eligibility for genetic testing. No statistically significant difference existed between the eligibility for genetic testing prior to and post counseling. This suggests that family history questionnaires can be effective at obtaining a family history and accurately assessing eligibility for genetic testing. Based on the variables that were significantly associated with a change in probability estimate, we further present recommendations for improving the clarity of such questionnaires and therefore the ease of use by patients.     

Adopted Individuals’ Views on the Utility and Value of Expanded Carrier Screening

Adoptees may not have family medical history and ethnicity information. Carrier screening assesses reproductive risk. Expanded carrier screening (ECS) screens for many genetic conditions regardless of a patient’s knowledge of family history and ethnicity. This study aimed to better understand the opinions and attitudes of adopted individuals on the use of ECS in determining a patient’s reproductive genetic risks. Specifically, the study assessed how adopted individuals feel that results of ECS may be useful to them and whether adoptees feel that meeting with a genetics professional in the process of undergoing ECS would be useful. Adult adoptees (N?=?124) were recruited online. Their opinions on ECS were explored. The majority reported they had never been offered carrier screening (92%). The majority of adoptees wanted ECS (76%). Neither the amount of contact with biological relatives nor having medical knowledge about biological relatives was significantly associated with adoptees’ desire to pursue ECS. There was a significant positive correlation between adoptees of higher education levels and the amount they would pay for ECS (p?=?0.004). The majority of participants (95%) indicated a genetics professional would be helpful when undergoing ECS. The findings suggest this population may want ECS and support from genetics healthcare professionals. Advocacy for genetic counseling and testing for adoptees appears justifiable.     

Risk-Reduction Surgery Decisions in High-Risk Women Seen for Genetic Counseling

Women at greatest risk for hereditary breast and ovarian cancer may consider prophylactic removal of breasts or ovaries as a risk-reduction measure. This report describes uptake of risk-reduction mastectomy (RRM), risk-reduction oophorectomy (RRO), and related factors in 62 high-risk women who received genetic counseling. Seven (11%) participants underwent RRM and 13 (21%) underwent RRO. Of these women, 37% did not have BRCA testing, suggesting other factors influence decisions to undergo surgery. Women who had indicated (pre-genetic counseling) their intent not to have surgery chose not to have surgery. Information received during genetic counseling that women perceived as being most important for influencing risk-reduction surgery decisions was BRCA test result (positive or negative), followed by discussion of family cancer history. Reasons for indecision about risk-reduction surgery included genetic testing results, concerns about surgery, timing in life, and early menopause. The findings enhance our understanding of information that is helpful to women considering this surgery.     

Update and Review: Cystic Fibrosis

Cystic fibrosis (CF) is one of the most commonly inherited recessive disorders in U.S. Caucasians, with a carrier frequency of approximately 1 in 29. Genetic counseling and CF mutation analysis has traditionally been offered to the affected patient and his/her extended family, in keeping with policy statements from professional organizations (ASHG, NSGC, ACOG). The target population for CF testing and counseling may be evolving after the release of the 1997 National Institutes of Health Consensus Statement, Genetic Testing for Cystic Fibrosis, which recommends that CF screening be offered to all preconceptional and pregnant couples. Genetic counseling for CF is complicated by reports of polymorphisms in the CF gene that are associated with symptoms that do not meet the diagnostic criteria for CF, such as bilateral congenital absence of the vas deferens, bronchiectasis, and idiopathic pancreatitis. To aid genetic counselors with these issues, this review explores the symptoms of CF, patient management, gene function, genetics, genotype/phenotype correlation, and genetic counseling issues.     

Attitudes Toward Fragile X Mutation Carrier Testing from Women Identified in a General Population Survey

Fragile X syndrome is primarily due to a CGG repeat expansion found in the FMR1 X-linked gene. In a previous study, we conducted focus groups with women to assess their attitudes towards fragile X carrier screening. In this follow-up study, we conducted in-depth interviews of general population reproductive-age women who were identified as carriers. We explored their attitudes toward testing for carrier status of the fragile X mutation. These women underwent screening primarily to participate in a research project rather than in search of a diagnosis for specific symptoms. As such, these women were wholly unprepared for positive carrier results. Their responses about their results and carrier screening, in many cases, were being worked out over the course of the interview itself. The most salient finding of this work is the apparent lack of relevance of carrier status to these women. Many expressed that although the information could be relevant in the future, it is not relevant at this stage of their lives in terms of family planning (either with respect to having unaffected offspring or to premature ovarian failure) and personal relationships. Although issues of abortion seemed prominent in the focus groups, we found that carrier status did not have an apparent effect on women’s attitudes about termination. We hypothesize this may be related to the fact that women had not processed their new carrier status and had not related it to previously-formed personal opinions. The findings of this work have significant implications for genetic counseling and population screening. Genetic counselors should be mindful that general population women may not recognize the immediate importance of their carrier status even when literature is provided and discussed prior to providing a sample. As part of comprehensive genetic counseling, counselors should identify the reproductive life stage of the woman receiving the new information and help her identify when this information would be more meaningful in her life. Counselors can assist in setting up a personalized road map with specific types of services that will be more applicable to the woman as her carrier status becomes more relevant.     

Factors Influencing Clinical Follow-Up for Individuals with a Personal History of Breast and/or Ovarian Cancer and Previous Uninformative <Emphasis Type="Italic">BRCA1</Emphasis> and <Emphasis Type="Italic">BRCA2</Emphasis> Testing

Genetic testing for inherited cancer risk has recently improved through the advent of multi-gene panels and the addition of deletion and duplication analysis of the BRCA genes. The primary aim of this study was to determine which factors influence the intent of individuals with a personal history of breast and/or ovarian cancer and negative or uncertain BRCA1 and BRCA2 testing to return to a hereditary cancer program for additional genetic risk assessment, counseling, and testing. Surveys were sent to 1197 individuals and 257 were returned. Of those participants who were planning to return to clinic, most cited having family members who could benefit from the test result as the primary motivation to return. Many participants who were not planning to return to clinic cited the cost of testing as a barrier to return. Cost of testing and concerns about insurance coverage were the most commonly cited barriers for the group of participants who were undecided about returning to clinic. Results from this study may be used to guide re-contact efforts by clinicians to increase patient uptake to return to clinic for up-to-date genetic risk assessment, counseling, and testing.     

Impact of Panel Gene Testing for Hereditary Breast and Ovarian Cancer on Patients

Recent advances in next generation sequencing have enabled panel gene testing, or simultaneous testing for mutations in multiple genes for a clinical condition. With more extensive and widespread genetic testing, there will be increased detection of genes with moderate penetrance without established clinical guidelines and of variants of uncertain significance (VUS), or genetic variants unknown to either be disease-causing or benign. This study surveyed 232 patients who underwent genetic counseling for hereditary breast and ovarian cancer to examine the impact of panel gene testing on psychological outcomes, patient understanding, and utilization of genetic information. The survey used standardized instruments including the Impact of Event Scale (IES), Multidimensional Impact of Cancer Risk Assessment (MICRA), Satisfaction with Decision Instrument (SWD), Ambiguity Tolerance Scale (AT-20), genetics knowledge, and utilization of genetic test results. Study results suggested that unaffected individuals with a family history of breast or ovarian cancer who received positive results were most significantly impacted by intrusive thoughts, avoidance, and distress. However, scores were also modestly elevated among unaffected patients with a family history of breast and ovarian cancer who received VUS, highlighting the impact of ambiguous results that are frequent among patients undergoing genetic testing with large panels of genes. Potential risk factors for increased genetic testing-specific distress in this study included younger age, black or African American race, Hispanic origin, lower education level, and lower genetic knowledge and highlight the need for developing strategies to provide effective counseling and education to these communities, particularly when genetic testing utilizes gene panels that more commonly return VUS. More detailed pre-test education and counseling may help patients appreciate the probability of various types of test results and how results would be used clinically, and allow them to make more informed decisions about the type of genetic testing to select.     

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.     

Sources of Uncertainty About Daughters’ Breast Cancer Risk that Emerge During Genetic Counseling Consultations

Uncertainty is central to the experience of genetic decision making and counseling about cancer risk. Women seeking genetic counseling about their breast cancer risk may experience a great deal of uncertainty about issues related to their daughters. We used a theory of Communication and Uncertainty Management to guide analysis of sources of uncertainty about daughters that emerged during 16 video-recorded and transcribed conversations between mothers at risk for a BRCA 1/2 mutation and their genetic healthcare practitioners. An interpretive design and constant comparative method revealed three dominant patterns or themes representing sources of uncertainty mothers have relating to their daughters: disease risk, future cancer screening, and communication of related information to daughters. Both practitioners and mothers discussed these aspects of uncertainty. The findings identify the significant role uncertainty and familial concerns play in mothers’ genetic testing decision making process. To assist genetic practitioners, we highlight daughter-related concerns that mothers are uncertain about and which are vital to their genetic counseling needs.     

Cystic Fibrosis Prenatal Screening in Genetic Counseling Practice: Recommendations of the National Society of Genetic Counselors

For over a decade, prenatal screening for cystic fibrosis (CF) has been considered a model for the integration of genetic testing into routine medical practice. Data from pilot studies and public policy discourse have led to recommendations by some professional organizations that CF screening should be offered or made available to pregnant women and their partners, and to couples planning a pregnancy. It is crucial that genetic counselors gain thorough understanding of the complexities of CF and the implications of positive test results, so that they may serve as a reliable, educated referral base and resource for health care providers and their patients. While not all pregnant women will be referred for genetic counseling prior to CF carrier testing, genetic counselors often will be asked to counsel clients after they have a positive test result, or who are found to be at increased risk. Genetic counselors can play an important role in providing accurate and current information as well as support for patients informed decisions. These recommendations were created by a multicenter working group of genetic counselors with expertise in CF and are based on personal clinical experience, review of pertinent English language medical articles, and reports of expert committees. The recommendations should not be construed as dictating an exclusive course of management, nor does the use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care providers professional judgment based on the clinical circumstances of a particular client.     

Duchenne Muscular Dystrophy: a Survey of Perspectives on Carrier Testing and Communication Within the Family

Carrier testing is widely available for multiple genetic conditions, and several professional organizations have created practice guidelines regarding appropriate clinical application and the testing of minors. Previous research has focused on carrier screening, predictive testing, and testing for X-linked conditions. However, family perspectives on carrier testing for X-linked lethal diseases have yet to be described. In this study, we explored communication within the family about carrier testing and the perspectives of mothers of sons with an X-linked lethal disease, Duchenne muscular dystrophy (DMD). Twenty-five mothers of sons with DMD participated in an anonymous online survey. Survey questions included multiple choice, Likert scale, and open ended, short answer questions. Analysis of the multiple choice and Likert scale questions revealed that most mothers preferred a gradual style of communication with their daughters regarding risk status. In addition, most participants reported having consulted with a genetic counselor and found it helpful. Comparisons between groups, analyzed using Fisher’s exact tests, found no differences in preferred style due to mother’s carrier status or having a daughter. Thematic analysis was conducted on responses to open ended questions. Themes identified included the impact of family implications, age and maturity, and a desire for autonomy regarding the decision to discuss and undergo carrier testing with at-risk daughters, particularly timing of these discussions. Implications for genetic counseling practice are discussed.     

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.     

Counseling and screening for cystic fibrosis in patients with congenital bilateral absence of the vas deferens: Patient perceptions

Congenital bilateral absence of the vas deferens (CBAVD) occurs in approximately 1.3% of infertile males and is thought to be, in most cases, a primarily genital form of cystic fibrosis (CF). Fourteen males with CBAVD considering microsurgical sperm aspiration from the epididymis (MESA) and in vitro fertilization were seen for genetic counseling and screening for CF. To retrospectively evaluate these patients' perceptions of the counseling and screening information, we conducted structured telephone interviews to assess their recall of information about CF and its impact on their health concerns and reproductive plans. We found that, as the health implications of CF are abstract and not as important to patients as the diagnosis of CBAVD itself, patients tend to view their CF status primarily in terms of their reproductive potential. Retrospective analysis afforded us an opportunity to identify the psychosocial issues of most concern to this unique patient population.     

Shock,Adjust, Decide: Reproductive Decision Making in Cystic Fibrosis (CF) Carrier Couples—A Qualitative Study

Cystic fibrosis (CF) is the most common recessive condition affecting the White British population. Facilitating reproductive decision making for couples at genetic risk for CF is an important aspect of genetic counseling practice in the UK. The purpose of this study was to explore the reproductive decision making process for 31 members of CF carrier couples (15 men and 16 women) with or without an affected child. The design involved a qualitative approach consisting of semi-structured interviews and data analysis informed by grounded theory methodology. Sex and personal experience of CF were identified as factors that may influence reproductive decision making. Findings suggest these hypotheses: (1) CF carrier couples who have an affected child/pregnancy, are more likely to embark on another pregnancy than couples who have a healthy child from an at-risk pregnancy, and (2) men and women play different roles in the reproductive decision making process. Data analysis resulted in development of a structured framework modeling the reproductive decision making process, which may be helpful in guiding genetic counseling with CF carrier couples and other at risk couples making reproductive decisions.