Expert Knowledge Influences Decision-Making for Couples Receiving Positive Prenatal Chromosomal Microarray Testing Results.

To assess how participants receiving abnormal prenatal genetic testing results seek information and understand the implications of results, 27 US female patients and 12 of their male partners receiving positive prenatal microarray testing results completed semi-structured phone interviews. These interviews documented participant experiences with chromosomal microarray testing, understanding of and emotional response to receiving results, factors affecting decision-making about testing and pregnancy termination, and psychosocial needs throughout the testing process. Interview data were analyzed using a modified grounded theory approach. In the absence of certainty about the implications of results, understanding of results is shaped by biomedical expert knowledge (BEK) and cultural expert knowledge (CEK). When there is a dearth of BEK, as in the case of receiving results of uncertain significance, participants rely on CEK, including religious/spiritual beliefs, "gut instinct," embodied knowledge, and social network informants. CEK is a powerful platform to guide understanding of prenatal genetic testing results. The utility of culturally situated expert knowledge during testing uncertainty emphasizes that decision-making occurs within discourses beyond the biomedical domain. These forms of "knowing" may be integrated into clinical consideration of efficacious patient assessment and counseling.

Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families.

Chromosomal microarray analysis (CMA) has improved the diagnostic rate of genomic disorders in pediatric populations, but can produce uncertain and unexpected findings. This article explores clinicians' perspectives and identifies challenges in effectively interpreting results and communicating with families about CMA. Responses to an online survey were obtained from 40 clinicians who had ordered CMA. Content included practice characteristics and perceptions, and queries about a hypothetical case involving uncertain and incidental findings. Data were analyzed using nonparametric statistical tests. Clinicians' comfort levels differed significantly for explaining uncertain, abnormal, and normal CMA results, with lowest levels for uncertain results. Despite clinical guidelines recommending informed consent, many clinicians did not consider it pertinent to discuss the potential for CMA to reveal information concerning biological parentage or predisposition to late-onset disease, in a hypothetical case. Many non-genetics professionals ordering CMA did not feel equipped to interpret the results for patients, and articulated needs for education and access to genetics professionals. This exploratory study highlights key challenges in the practice of genomic medicine, and identifies needs for education, disseminated practice guidelines, and access to genetics professionals, especially when dealing with uncertain or unexpected findings.

Motivations and perceptions of early adopters of personalized genomics: perspectives from research participants.

BACKGROUND/AIMS: To predict the potential public health impact of personal genomics, empirical research on public perceptions of these services is needed. In this study, 'early adopters' of personal genomics were surveyed to assess their motivations, perceptions and intentions. METHODS: Participants were recruited from everyone who registered to attend an enrollment event for the Coriell Personalized Medicine Collaborative, a United States-based (Camden, N.J.) research study of the utility of personalized medicine, between March 31, 2009 and April 1, 2010 (n = 369). Participants completed an Internet-based survey about their motivations, awareness of personalized medicine, perceptions of study risks and benefits, and intentions to share results with health care providers. RESULTS: Respondents were motivated to participate for their own curiosity and to find out their disease risk to improve their health. Fewer than 10% expressed deterministic perspectives about genetic risk, but 32% had misperceptions about the research study or personal genomic testing. Most respondents perceived the study to have health-related benefits. Nearly all (92%) intended to share their results with physicians, primarily to request specific medical recommendations. CONCLUSION: Early adopters of personal genomics are prospectively enthusiastic about using genomic profiling information to improve their health, in close consultation with their physicians. This suggests that early users (i.e. through direct-to-consumer companies or research) may follow up with the health care system. Further research should address whether intentions to seek care match actual behaviors.

The general public's understanding and perception of direct-to-consumer genetic test results.

BACKGROUND/AIMS: Direct-to-consumer (DTC) genetic testing allows consumers to discover their risk for common complex disorders. The extent to which consumers understand typical results provided by DTC genetic testing is currently unknown. Misunderstanding of the results could lead to negative consequences including unnecessary concern, false reassurance or unwarranted changes in screening behaviors. We conducted a study to investigate consumers' perceptions and understanding of DTC test results. METHODS: An online survey was posted on Facebook that included questions relating to 4 sample test results for risk of developing colorectal cancer, heart disease and skin cancer. Genetic counselors were used as a comparison group. RESULTS: 145 individuals from the general public and 171 genetic counselors completed the survey. A significant difference was found between the way the general public and genetic counselors interpreted the meaning of the DTC results. The general public respondents also believed that results in all 4 scenarios would be significantly more helpful than the genetic counselors did. Although the majority of general public respondents rated the results as easy to understand, they often misinterpreted them. CONCLUSIONS: These findings imply that the general public has the potential to misinterpret DTC results without appropriate assistance. Further research is needed to explore optimal methods of providing DTC test results and ways to minimize the risk of negative consequences for consumers.

Genetics professionals' experiences with grief and loss: implications for support and training.

This study was designed to determine the degree to which clinical genetics professionals are comfortable with grief and loss, whether discomfort with grief and loss is associated with clinician distress, and what factors predict comfort with grief and loss for the purpose of developing recommendations for support and training. We surveyed 300 clinical geneticists (MDs), genetic counselors (GCs) and genetic nurses randomly selected from their professional associations. Out of 225 eligible clinicians, 172 completed surveys (76% response rate). The vast majority of respondents have clinical interactions with patients and families who are experiencing grief, loss and/or death. However, nearly 20% of respondents reported that they did not feel 'comfortable in the presence of grief and loss'. Twenty-nine percent of respondents disagree or strongly disagree that they 'have been adequately trained to address issues of death, dying, grief/bereavement, and end of life care'. Reported discomfort with grief and loss was strongly correlated with clinician distress. Predictors of comfort with grief and loss included perceived adequacy of training, tolerance for uncertainty, significant personal experiences of loss and deriving meaning from patient care. In conclusion, as follows. A significant minority of clinical genetics professionals experience discomfort in the presence of grief and loss, and feel inadequately prepared for such experiences. Greater attention should be paid to training clinicians in how to deal with grief and loss, and supporting them through such difficult experiences in an effort to reduce their distress.

Attitudes antecedent to transition to self-management of a chronic genetic disorder.

Marfan syndrome (MFS) is the exemplar of chronic genetic disorders that require multiorgan system management by health care providers (HCPs) and lifelong self-management by affected individuals. This article describes the ways to facilitate transition to self-management (TSM) by the adolescent with MFS. This thematic content analysis uses data collected for a larger grounded theory investigation of TSM of a chronic genetic disorder in adolescents and focuses on the system issues related to transition. A total sample of 107 included three groups of participants: parents (n = 39), adolescents (n = 37, ages 14-21 years) and young adults (n = 16, ages 22-34 years) with MFS, and HCPs (n = 15), including physicians, genetic counselors, and nurses. Data were derived from 180 transcripts of audiotaped interviews and a sociodemographic survey. Frames of mind that are antecedent to transition were belief in the diagnosis, wanting to understand and appreciate the cause and effect of MFS, and willing to share responsibility in problem solving. These frames of mind occurred primarily within the context of the family relationship. Parents taught children self-surveillance as 'listening to one's body'. The parent's fears and need to stay involved in the child's health care slowed the child's independent work on self-management responsibilities. A systematic, institutionalized transition program for adolescents might involve parents and the child soon after diagnosis and incrementally build acknowledgment, understanding, and rapport.

Carrier screening for cystic fibrosis among Maryland obstetricians before and after the 1997 NIH Consensus Conference.

The 1997 National Institutes of Health (NIH) Consensus Conference on Cystic Fibrosis (CF) testing recommended that carrier screening be offered to all pregnant women and couples planning a pregnancy. We surveyed 492 Maryland Ob-Gyns before and after the consensus conference to: (1) assess whether obstetricians changed their practice regarding CF carrier testing, and (2) identify the factors associated with changing practice patterns, including awareness of the statement, and knowledge about CF. Fifty-six percent (275) responded to the first mail questionnaire and 107 obstetricians responded to both questionnaires. In 1998, only 18% of respondents to the second questionnaire were familiar with the NIH statement, but 43% reported discussing testing with patients with no family history, a significant increase from 1997, when only 20% reported discussing testing. Less than one-third correctly answered six multiple-choice knowledge questions about CF and carrier testing. In multivariate analysis, knowledge and familiarity with the NIH consensus statement were not associated with beginning to discuss CF carrier testing after the CF conference with their patients without a family history.

Mothers and daughters from breast cancer families: a qualitative study of their perceptions of risks and benefits associated with minor's participation in genetic susceptibility research.

OBJECTIVES: To determine: 1) the views of daughters at increased risk of developing breast cancer regarding the benefits and risks of participating in genetic susceptibility research; 2) mothers' views about enrolling their daughters in genetic susceptibility research; and 3) any important areas of agreement and disagreement between mothers and daughters in their assessment of risks and benefits. METHODS: We conducted separate interviews of mothers and daughters from 12 breast cancer families recruited primarily through the Breast Center at Johns Hopkins University. Daughters were between the ages of 10 and 17. Interviews were transcribed and coded and analyzed qualitatively. RESULTS: We observed that mothers and daughters had a range of reactions to the prospect of enrolling children and adolescents in genetic susceptibility research, that perceptions of benefits and risks were fairly concordant between mothers and daughters, and that daughters initially identified no risks of participating, but their perceptions of the risks and benefits of genetic susceptibility research evolved over the course of conversation. CONCLUSION: These findings underscore the view that informed consent ought to be a "process" rather than a single event, and that children's first reactions to the prospect of participating in genetic testing research should not be taken as evidence that they have adequately considered the risks and benefits of participation.

Goals, benefits, and outcomes of genetic counseling: client and genetic counselor assessment.

Most studies of outcomes of genetic counseling have focused on client knowledge, reproductive plans and behavior, or satisfaction. Other measures of the "value" of genetic counseling are needed to guide research assessing the impact of genetic counseling on individuals and populations, as well as to improve the process of providing care. To obtain input from providers, we conducted telephone interviews with six experienced genetic counselors, and then we held a focus group with 10 additional genetic counselors from a variety of practice settings. To obtain input from consumers, telephone interviews were also conducted with 19 past clients of these participating counselors. We found that counselor goals focus on meeting clients' needs, usually educating and providing psychosocial support. Clients often had few goals going into a session because they were unaware of what would be discussed or how the session would be structured. They usually did not expect to receive "counseling," and when they did, it was a welcome surprise. Both clients and counselors commented that a positive interpersonal interaction and "connecting" are primary measures of success. All clients appreciated the large amount of time spent with the counselor, and the manner (clear, comprehensive, and unhurried) of providing information. Many clients said that genetic counseling resulted in improved communication with their partners and other family members. Clients view the counselor as an "expert" and value the counselor as an on-going resource for both information and support. These "outcomes"f genetic counseling need to be assessed, and new measures must be developed.

What would you do? Specialists' perspectives on cancer genetic testing, prophylactic surgery, and insurance discrimination.

PURPOSE: To examine what cancer genetics specialists predict they would do personally if they were at 50% risk of carrying a mutation that predisposes to hereditary breast/ovarian cancer (BRCA1/BRCA2) and hereditary nonpolyposis colon cancer (HNPCC). METHODS: Questionnaire survey of the membership of the National Society of Genetic Counselors (NSGC) Special Interest Group (SIG) in Cancer. RESULTS: Of the 296 active members of the NSGC Cancer-SIG surveyed, 163 (55%) responded. Eighty-five percent predicted that if they had a 50% risk of carrying a BRCA1/BRCA2 mutation, they would pursue genetic testing. If they tested positive for a mutation at age 35, 25% predicted they would pursue prophylactic bilateral mastectomies and 68%, prophylactic oophorectomy. Ninety-one percent of respondents believe they would pursue genetic testing for HNPCC, and 17% would elect prophylactic colectomy; 54%, prophylactic hysterectomy; and 52%, prophylactic oophorectomy if they tested positive for a mutation. The majority (68%) would not bill their insurance companies for genetic testing because of fear of discrimination, and 26% would use an alias when undergoing testing. Fifty-seven percent of counselors would seek professional psychologic support to help them cope with the results of testing. CONCLUSION: A large percentage of cancer genetic counseling providers predicted they would opt for prophylactic surgery at a young age if they carried a BRCA or HNPCC mutation, and most would seek professional psychologic assistance when undergoing testing. More than half of respondents would not bill their insurance companies for genetic testing, largely because of fear of genetic discrimination. The vast majority of those providers most familiar with cancer genetic testing and its associated medical, psychologic, and legal implications would still pursue genetic testing.

Factors influencing health insurers' decisions to cover new genetic technologies.

OBJECTIVE: To examine the relative importance of factors influencing health insurers' coverage of new genetic technologies. METHODS: A national survey in which the decision makers for private health insurers were asked whether they would cover cystic fibrosis (CF) carrier screening, testing for genetic susceptibility to breast cancer (BRCA test), and medical costs of a clinical trial of gene therapy for CF under a variety of conditions. RESULTS: Respondents' coverage of the two tests and of medical costs of clinical trials was low at the time of the study (4%-15.5% of insurers). Their coverage of CF carrier screening and BRCA testing would be increased significantly if the group tested was restricted to those at high risk, if detection rates were higher and costs lower, and if testing was endorsed by a national professional group or consensus conference. Coverage of the medical costs of a trial of CF gene therapy would be significantly more likely if the trial was restricted to children or adults with severe CF, safety and effectiveness was proven, and therapy could be administered in a regional hospital or an outpatient setting rather than in a research hospital. CONCLUSIONS: Health insurers play a critical role in the diffusion of new genetic technologies. The validity of genetic tests and the safety and effectiveness of new therapies are primary factors influencing health insurers' coverage. Lower costs and approval of professional groups are other factors associated with increased coverage.

Should women at increased risk for breast and ovarian cancer be randomized to prophylactic surgery? An ethical and empirical assessment.

More information is needed about the relative effectiveness of prophylactic surgery, chemoprevention, and surveillance in reducing breast and ovarian cancer risk in women with an inherited susceptibility mutation. We assessed practical and ethical barriers to conducting randomized clinical trials (RCTs) to compare preventive interventions for breast and ovarian cancer. Eighty-seven at-risk women who attended an education and counseling session about BRCA1/2 testing were asked about their willingness to participate in hypothetical research studies for breast and ovarian cancer risk reduction. In addition, 247 Maryland physicians from five specialties completed a mail survey including a question about their likelihood of recommending RCT participation to an at-risk woman. Nineteen percent of at-risk women reported willingness to participate in a hypothetical RCT for breast cancer risk reduction and 17% for ovarian cancer risk reduction. Women with children and women likely to have a prophylactic mastectomy if found to have a susceptibility mutation were significantly more willing to participate in an RCT. A majority of women would be willing to participate in nonrandomized trials or registries. Fifty-two percent of physicians responded that they would be likely to recommend RCT participation to a woman carrying a breast cancer susceptibility mutation. Oncologists were the most likely to recommend an RCT. Although the results of nonrandomized trials may be difficult to interpret because of such issues as selection bias. Greater feasibility combined with fewer ethical concerns make nonrandomized trials a more viable alternative to randomized trials for evaluation of preventive interventions for breast and ovarian cancer when prophylactic surgery is one of the treatments being evaluated.

Evaluation of nurses and genetic counselors as providers of education about breast cancer susceptibility testing.

PURPOSE/OBJECTIVES: To compare outcomes of pretest education about breast cancer susceptibility testing provided by nurses and genetic counselors. DESIGN: Two-group, post-test only evaluation of an educational intervention. SETTING: A tertiary care hospital. SAMPLE: 87 women who had a first-degree relative with premenopausal breast cancer; six specially-trained providers (four genetic counselors and two nurses). METHODS: Self-administered questionnaire completed immediately following education sessions. MAIN RESEARCH VARIABLES: Subjects' understanding of the limitations of testing, perceived autonomy in decision making, and satisfaction; partnership as perceived by subjects and providers. FINDINGS: After the sessions, 62% of subjects understood the limitations of testing, 98% reported a high degree of perceived autonomy in decision making, 81% were highly satisfied with the session, and 91% reported forming a partnership with their providers. Lower perceived partnership reported by genetic counselors was the only significant difference by provider type. CONCLUSIONS: With training and supervision, nurses and genetic counselors can be equally effective in providing education about genetic testing for breast cancer susceptibility in research settings. Additional research is needed to determine the outcomes of education provided in clinical settings. IMPLICATIONS FOR NURSING PRACTICE: As the demand for education about genetic testing for cancer susceptibility increases, nurses need to be educated and trained to provide this service.

Participation in breast cancer susceptibility testing protocols: influence of recruitment source, altruism, and family involvement on women's decisions.

OBJECTIVES: We offered education, counseling, and family-based BRCA1/2 testing to women at increased risk of breast cancer and assessed (a) their reasons for participating and (b) whether source of recruitment, desire to help research (altruism), and the need to communicate with their affected relative about testing distinguish those who did and those who did not complete each phase of our protocol. MATERIALS AND METHODS: We sent invitations to 403 women who had completed a questionnaire on BRCA1/2 testing, 178 of whom were considered high risk because they had more than one relative on the same side of the family with early-onset breast cancer. RESULTS: Among the 132 high-risk respondents from the mid-Atlantic states (where testing was offered), 36% (n = 47) were interested in counseling. Those who actually attended counseling were more likely to have some college education, a higher perceived risk of breast cancer, and a greater fear of stigma and were less likely to have a daughter than those who did not attend. The reasons for attending that were rated "very important" were to learn about the test (80%), to have the test (43%), and to help research (38%). High-risk women were eligible for testing only if their affected relative was willing to be tested and tested positive. After the session, 83% intended to ask their affected relative to be tested, but only half of the affected relatives actually came for pretest counseling. The proportion of participants who ultimately involved an affected relative was 2.5 times higher among women from a clinical population (25%) than among those from a registry population (10%); in this latter population, an altruistic desire to help research was a greater motivator for participation than interest in being tested. CONCLUSIONS: Source of recruitment influences both motivations to attend education and counseling and actual testing behavior. These results have implications for interpretation of findings from studies in research settings as well as for informed consent and decision-making in the context of family-based testing.

Issues in implementing prenatal screening for cystic fibrosis: results of a working conference.

PURPOSE: To summarize a conference convened to examine how cystic fibrosis screening might appropriately be introduced into routine prenatal practice. METHODS: Participants included experts from various relevant disciplines. Systematic reviews and data from individual trials were presented; issues were identified and discussed. RESULTS: Judged by published criteria, prenatal cystic fibrosis screening is suitable for introduction. Screening can be performed cost-effectively by identifying racial/ethnic groups at sufficient risk and then using either of two models for delivering laboratory services. Validated educational materials exist. Ethical issues are not unique. CONCLUSIONS: Once adequate facilities for patient and provider education, testing, counseling, quality control, and monitoring are in place, individual programs can begin prenatal screening for cystic fibrosis.

Effects of obstetrician gender on communication and patient satisfaction.

OBJECTIVE: To describe patient-obstetrician communication during the first prenatal visit and its relationship to physician gender and patient satisfaction. METHODS: The first prenatal visit of 87 women with 21 obstetricians (11 male and ten female) was audiotaped and analyzed using the Roter Interaction Analysis System. Patient satisfaction was measured by postvisit questionnaire. RESULTS: Communication during first prenatal visits was largely biomedical, with little psychosocial or social discussion. Male physicians conducted longer visits than females (26 minutes versus 21.9 minutes, P < .05) and engaged in more facilitative communication (ie, making sure they were understood and providing direction and orientation) and explicit statements of concern and partnership (z > 1.96, P < .05). Female physicians devoted more communication to agreements, disagreements, and laughter than males (z > 1.96, P < .05). Satisfaction with physicians' emotional responsiveness and informational partnership was related to female physician gender and a variety of task-focused and affective communication variables. CONCLUSION: Communication and satisfaction between women and obstetricians during initial prenatal visits is related to physician gender and patient satisfaction. Male physicians conducted longer visits but women were more satisfied with female physicians.

Decision-making about breast cancer susceptibility testing: how similar are the attitudes of physicians, nurse practitioners, and at-risk women?

PURPOSE: To determine what consumers and providers would want to discuss about breast cancer susceptibility testing (BCST) and their preferred role in testing decisions. METHODS: We surveyed 426 at-risk women, 143 nurse practitioners, and 296 physicians in five specialties in Maryland. RESULTS: All groups believe it is important to discuss how the chance of breast cancer can be reduced and what the chances are of getting breast cancer if the test is positive. Both provider groups attributed more importance than consumers to discussing whether cancer can occur if the test is negative. Discussing the risk of depression and anxiety was more important to providers than consumers. Eighty-two percent of women would want their providers to make a recommendation about testing, but only 43% of nurse practitioners and 68% of physicians would do so. Eighteen percent of physicians underestimated the importance of informed consent for testing and 34% of discussing the risk of insurance discrimination. Fewer than 6% of women, if found to have a mutation, would be likely to undergo prophylactic mastectomy, whereas 12% of nurse practitioners and 34% of physicians would be likely to recommend such surgery. One third of respondents in all three groups supported testing a 13-year old daughter of a mutation-carrier. CONCLUSION: Physicians should place greater value on informed consent and discussing practical aspects of testing, and physicians and nurse practitioners should pay more attention to the limitations of testing children, insurance discrimination, and consumers' desire for provider recommendations. In light of the limited discordance between nurse practitioners and consumers, nurse practitioners can play an increasing role in education and counseling about BCST.

Prenatal genetic testing: content of discussions between obstetric providers and pregnant women.

OBJECTIVE: To document the content and accuracy of discussions about prenatal genetic testing between obstetric providers and pregnant women. METHODS: The first prenatal visits of 169 pregnant women with 21 obstetricians and 19 certified nurse-midwives were audiotaped and analyzed for whether a discussion of family history or genetic testing took place and if so, its length, content, and accuracy. RESULTS: Family history was discussed in 60% of visits, maternal serum marker screening in 60%, second-trimester ultrasonography for fetal anomalies in 34%, and for women at least 35 years old, amniocentesis or chorionic villus sampling (CVS) in 98%. The length of discussions of genetic testing averaged 2.5 minutes for women younger than 35 years of age and 6.9 minutes for older women. Topics discussed most often were the practical details of testing, the purpose of testing, and the fact that testing is voluntary. Discussions seldom were comprehensive. Obstetricians were more likely to make a recommendation about testing than were nurse-midwives and were less likely to indicate that testing is voluntary. Most women were satisfied with the amount of information, and the majority of women of advanced maternal age had made a decision about amniocentesis or CVS by the end of the visit. CONCLUSION: The information about genetic testing provided in the first prenatal visit is inadequate for ensuring informed autonomous decision-making. Guidelines addressing the content of these discussions should be developed with input from obstetricians, nurse-midwives, genetic counselors, and pregnant women.

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.

"Decoding" informed consent. Insights from women regarding breast cancer susceptibility testing.

Cancer susceptibility testing is likely to become routine in medical practice, despite many limitations and unanswered questions. These uncertainties greatly complicate the process of informed consent, creating an excellent opportunity to reconsider exactly how it should be conducted. Research with women's reactions to the availability of genetic susceptibility testing for breast cancer dramatically underscores that informed consent ought to be highly individualized, taking care to discern what patients believe about the disease and its causes and what role they want their physician to play.