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.     

Attitudes Toward Cystic Fibrosis Carrier and Prenatal Testing and Utilization of Carrier Testing Among Relatives of Individuals with Cystic Fibrosis

A questionnaire and an offer of free carrier testing was mailed to 173 relatives of individuals with CF. The questionnaire addressed their knowledge of clinical and genetic aspects of CF, as well as their attitudes toward carrier testing, prenatal diagnosis, and pregnancy termination for CF. Eighty-one individuals returned the questionnaire (47%) and 50 elected carrier testing (29%). Most respondents underestimated their carrier risk (60%), but overestimated their risk to have a child with CF (63%). Most (93%) indicated they would utilize carrier testing, and 70% would use prenatal testing; however, only 7% would consider terminating a pregnancy for CF. The intention to use prenatal testing was correlated with the perceived health of the proband and whether the respondent was planning to have (more) children. The acceptability of abortion was correlated with the respondent's perceived impact or burden of CF.     

CF carrier testing: Experience of relatives

Consensus exists that genetic counseling and CF carrier testing should be offered to individuals with a positive family history of CF. To learn more about their experience with genetic counseling and testing we conducted a series of structured telephone interviews and focus group discussions with individuals and couples who had undergone genetic counseling and carrier testing because of a family history of CF. Traditional genetic counseling appears to have been effective for this population. Subjects generally report having a positive counseling experience and few difficulties upon learning their carrier status. Subjects were quite knowledgeable about CF and their carrier risk and were highly motivated to seek testing. They may not be representative of all individuals with a family history of CF however. For carriers, concerns about whether and when to have children tested, and concerns about insurance implications of carrier status may emerge sometime after the initial counseling. Strategies for addressing these concerns and for providing efficient and effective education and genetic counseling for people with a family history of CF need to be developed.     

Pediatric and Adult Recommendations Vary for Sibling Testing in Cystic Fibrosis

Four to 5 % of cystic fibrosis (CF) patients are diagnosed as adults and often have subtler symptoms. Their siblings are at genetic risk to also have a subtler disease state. Diagnostic testing is recommended for siblings of newly diagnosed infants, but recommendations are less clear for later diagnoses. This study explored sibling testing recommendations in pediatric and adult practice using a survey that was emailed to CF clinicians. There were 58 respondents. Results revealed that 82.5% of pediatric and 36.4% of adult care respondents reported always recommending diagnostic testing for siblings of a newly diagnosed patient. In adult care, another 33.3% reported recommending diagnostic testing if the sibling has symptoms. In pediatric care, whether the sibling had newborn screening was most influential. Most pediatric respondents prefer the sweat chloride test, while 40% in adult practice prefer familial mutation analysis. Perceived barriers included cost, insurance coverage and logistical concerns in both settings, parental emotional state in pediatrics, and concern making recommendations for someone who is not the patient in adult care. Genetic counselors may be able to meet familial needs in CF care, including sibling testing. Many newly diagnosed patients/families do not see a genetic counselor, especially in adult care. These data reveal opportunities for practice guidelines and standardization.     

Cancer Risk Assessment and Genetic Counseling in an Academic Medical Center: Consultands' Satisfaction, Knowledge, and Behavior in the First Year

In 1995, we formally established a multifaceted cancer genetics program of clinical services, research, and education at a general academic medical center. In the first year, 58 families, mostly physician referred, received cancer risk assessment and genetic counseling for a family and/or medical history of cancer. The primary reasons for seeking consultation were to determine their risk or their offspring's risk for developing certain cancers and to inquire about the availability of DNA testing for predisposition to breast, ovarian, or colon cancers. To assess the level of satisfaction with program services, 51 consultands (22% with a personal history of cancer) were interviewed independently by telephone 3–12 months after the session. One goal of the survey was to improve program service. Ninety percent of respondents reported that the consultation was worth their time and money. Forty-two percent stated that their anxiety related to their cancer risk had decreased following counseling and 56% indicated no change. Recall of exact numerical risk was poor and one-third could not remember hearing any risk estimate. More respondents would recommend the service to friends (90%) than to family members (75%). Overall, the service was positively received by the majority of patients.     

Provision of Genetics Services on Guam

Guam’s geographic isolation and lack of community resources have resulted in unique healthcare needs. In 2006, the Western States Genetic Services Collaborative (WSGSC) conducted a genetics needs assessment and found that professional development is limited, families lack access to genetic services, and improved coverage of genetic testing is needed. With funding from the WSGSC, a Guam genetics outreach clinic was established and staffed by genetic counselors and a medical geneticist from Hawaii. Four clinics have been held to date. Although several challenges have been encountered, including minimal coverage of genetic testing by Guam insurance companies, limited referrals for families with private insurance, and inappropriate referral indications, the outreach clinic has been successful at increasing access to genetic services and improving professional development. With more collaborative work by staff from Guam, Hawaii, and the WSGSC, provision and reimbursement of genetic services and testing will continue to improve.     

Client Advocacy and Collaboration with Insurance and Laboratory Testing Agencies: A Case Study Illustrating Genetic Counselor Roles

Genetic counseling and the many roles a genetic counselor must assume to provide quality genetic health care are becoming increasingly complex, especially when the genetic condition is rare, and DNA testing is costly and not yet routinely used. A case study of a couple with a family history of retinoblastoma and their pursuit of DNA testing for prenatal diagnosis is presented. The case study illustrates the instrumental role of the genetic counselor in advocating for clients for genetic services such as DNA testing and in educating insurance companies in the nature and importance of such services to achieve improved client health care outcomes.     

Evolution of an Inpatient Pediatric Psychology Consultation Service: Issues Related to Reimbursement and the Use of Health and Behavior Codes

The purpose of this study was to evaluate an inpatient pediatric psychology consultation service, with particular focus on issues related to financial reimbursement for services. Information was gathered over a four year period (2001–2005) regarding number of consults, referral source and referral question, type of insurance, and reimbursement rates for health and behavior codes versus mental health codes. The financial impact of hiring an insurance verification specialist was also explored. Results indicated that reimbursement rates for health and behavior codes were higher than reimbursement rates for mental health codes. Health and behavior codes were rejected in 31% of cases that they were billed; the primary reason for rejection was that these codes were not a covered service by Medicaid. Hiring an insurance verification specialist was found to be a cost-effective method for improving the financial “bottom-line” for psychology services. Implications for practice are discussed.     

Primary Care Physicians’ Awareness, Experience and Opinions of Direct-to-Consumer Genetic Testing

The purpose of this study was to assess primary care physicians’ awareness, experience, opinions and preparedness to answer patients’ questions regarding direct-to-consumer (DTC) genetic testing. An anonymous survey was mailed to 2,402 family and internal medicine providers in North Carolina. Of the 382 respondents, 38.7% (n = 148) were aware of and 15% (n = 59) felt prepared to answer questions about DTC genetic tests. Respondents aged 50 or older were more likely to be aware of DTC genetic testing than those less than 40 years old (OR = 2.42). Male providers were more likely to feel prepared to answer questions than female providers (OR = 2.65). Among respondents who reportedly were aware, family practitioners were more likely than internists (OR = 3.30) to think DTC testing was clinically useful, and 18.9% had patients ask questions or bring in test results. The small percent of physicians who were aware of DTC genetic testing or felt prepared to answer questions about it suggests that education of providers will be necessary if testing becomes more widespread.     

Uptake of BRCA1 Genetic Testing in Adult Sisters and Daughters of Known Mutation Carriers in Norway

This study was undertaken to examine transmission of information to first-degree relatives of BRCA1 mutation carriers and uptake of genetic testing. The intention was to consider revision of current legislation related to privacy if information on life-saving health care was not disseminated to at-risk family members. The Norwegian Radium Hospital provides clinical genetics services for families at high risk for hereditary breast and ovarian cancer. Together with major hospitals nationwide we provide medical surveillance. Nearly all expenses are covered by the National Health insurance. Because of the high number of families with founder mutations in BRCA1, we are in a unique position to gather information about these groups. Within a consecutive series, we identified 75 BRCA1 mutation carriers and registered information transmission and uptake of genetic testing 6 months or more after the index mutation carriers had been informed about their mutation status. These 75 BRCA1 mutation carriers had 172 living first-degree relatives, aged 18 years or older (84 females, 88 males). Forty-four out of 54 (81.5%) of females over 30 had opted for genetic testing. The testing rate among all relatives was 43%. At any age, 63% of the females underwent genetic testing compared with 24% of the males (p<0.05). The overwhelming majority of adult females at risk opted for genetic testing. Males with daughters more frequently than males without daughters asked for testing. The findings give neither reason to reconsider legislation on privacy, nor for us to consider more aggressive methods of contacting relatives.     

Testing Theoretical Explanations of Intention to Seek Care for a Breast Cancer Symptom1

The purpose of this research was to test theoretical explanations of intention to seek care promptly for a breast cancer symptom. Psychosocial variables (affect, expectations, values, and norms), habit, and facilitating conditions (e.g., insurance) regarding care seeking were proposed to influence intention to seek care promptly. Whether psychosocial variables and habit influenced intention directly or in interaction with facilitating conditions remained unclear. Other variables (i.e., clinical and demographic) were proposed to influence intention by mediation through the theoretical variables. Community-dwelling women without history of breast cancer (N= 99) responded to a questionnaire to assess study variables. In a hierarchical set regression, intention was first regressed on psychosocial variables, habit, and full insurance coverage for care, then on terms representing interactions of insurance coverage with psychosocial variables and habit, and lastly on clinical and demographic variables. Findings revealed that (a) anxiety (measure of affect), utility, (the product of expectations and values), and habit were related to intention, (b) having full insurance coverage did not moderate these relationships, and (c) after controlling for theoretical variables, family history of breast cancer was related inversely to intention. Implications for theory, research, and practice are delineated.     

Better the Devil You Know? High-Risk Individuals’ Anticipated Psychological Responses to Genetic Testing for Melanoma Susceptibility

Purpose: The psychological consequences of genetic testing for mutations among individuals at increased risk of developing melanoma remain unexamined. The present study aimed to explore anticipated emotional, behavioral, cognitive, and familial responses to hypothetical genetic testing for melanoma susceptibility. Methods: Forty semi-structured interviews were undertaken with affected (n=20) and unaffected (n=20) individuals at either high or average risk of developing melanoma due to family history. Results: In-depth thematic analysis revealed that, in response to being identified as a mutation carrier, most participants with a family history anticipated calmly accepting their increased risk; either increasing precaution adoption or maintaining already vigilant behavioral practices; perceiving such information as important and valuable; and communicating genetic test results to family members, despite the acknowledgement of potential difficulties. In response to being identified as a non-carrier, the majority of participants expected to feel relieved; to maintain current precautionary health practices; to still perceive themselves at some risk of developing melanoma; and to be wary of the potential negative behavioral consequences of disclosing such information to family members. Women appeared more likely than men to acknowledge the potential for depression and worry following genetic testing. In contrast, more males than females expected to carry a gene mutation, and viewed their current preventive practices as optimum. Conclusion: Genetic testing for melanoma risk is likely to elicit a complex array of emotional, behavioral, cognitive, and familial responses for both testees and their family members, and these responses are likely to bear subtle differences for males and females.     

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.     

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.     

Attitudes and Practice of Genetic Counselors Regarding Anonymous Testing for BRCA1/2

Patients and clinicians alike view anonymous testing as a potential way to avoid perceived risks of genetic testing such as insurance and employment discrimination and the potential loss of privacy. To assess their experience with and attitudes towards anonymous testing for BRCA1/2, genetic counselors were invited to complete an internet-based survey via the NSGC Familial Cancer Risk Counseling Special Interest Group (FCRC-SIG) listerv. A majority of the 115 respondents (70%) had received requests from patients for anonymous BRCA1/2 testing at some point in their careers and 43% complied with this request. Most counselors, however, encountered such requests infrequently, 1–5 times per year. Although genetic counselors do not generally encourage anonymous testing and over a third of respondents feel it should never be offered, a substantial subset support its use under specific circumstances. In general, a strong consensus exists among counselors that anonymous testing should not be offered routinely. In light of the current legislative landscape, it is of note that a substantial proportion of respondents (42.7%) cited the threat of life insurance discrimination as a reason for pursuing AT, and fewer cited health insurance (30.0%) or employment discrimination (29.1%) as justifications. Since there exists no federal legislative protections against discrimination by life insurance companies, it makes sense that genetic counselors were more responsive to this issue as opposed to the threat of discrimination in health insurance and employment.     

Prevalence of Genetic Testing in CHARGE Syndrome

Parents of 145 individuals with a clinical diagnosis of CHARGE syndrome, ages 2 to 39 years, indicated in a survey whether their child had been tested for the CHD7 mutation, which is the only gene presently known to be associated with CHARGE. More than two thirds (68%) of the affected individuals had never been gene tested. Of the 46 who had been tested, 74% tested positive for the mutation. Half (50%) of those who underwent testing did so as a part of a conference blood draw by Baylor College of Medicine in 1999. Children who were tested were significantly younger than those who had not been tested. A second group of 43 parents were informally surveyed at a conference in 2009. More than half of their children had been tested, and nearly 70% were positive for the mutation. Reasons given by these parents for testing included confirming the diagnosis and assisting research. Reasons given for not testing included lack of opportunity, no known benefit, and lack of insurance coverage.     

Demographic and Experiential Correlates of Public Attitudes Towards Cell-Free Fetal DNA Screening

This study seeks to inform clinical application of cell-free fetal DNA (cffDNA) screening as a novel method for prenatal trisomy detection by investigating public attitudes towards this technology and demographic and experiential characteristics related to these attitudes. Two versions of a 25-item survey assessing interest in cffDNA and existing first-trimester combined screening for either trisomy 13 and 18 or trisomy 21 were distributed among 3,164 members of the United States public. Logistic regression was performed to determine variables predictive of interest in screening options. Approximately 47 % of respondents expressed an interest in cffDNA screening for trisomy 13, 18, and 21, with a majority interested in cffDNA screening as a stand-alone technique. A significantly greater percent would consider termination of pregnancy following a diagnosis of trisomy 13 or 18 (52 %) over one of trisomy 21 (44 %). Willingness to consider abortion of an affected pregnancy was the strongest correlate to interest in both cffDNA and first-trimester combined screening, although markedly more respondents expressed an interest in some form of screening (69 % and 71 %, respectively) than would consider termination. Greater educational attainment, higher income, and insurance coverage predicted interest in cffDNA screening; stronger religious identification also corresponded to decreased interest. Prior experience with disability and genetic testing was associated with increased interest in cffDNA screening. Several of these factors, in addition to advanced age and Asian race, were, in turn, predictive of respondents’ increased willingness to consider post-diagnosis termination of pregnancy. In conclusion, divergent attitudes towards cffDNA screening—and prenatal options more generally – appear correlated with individual socioeconomic and religious backgrounds and experiences with disability and genetic testing. Clinical implementation and counseling for novel prenatal technologies should take these diverse stakeholder values into consideration.     

Writing Effective Insurance Justification Letters for Cancer Genetic Testing: A Streamlined Approach

The topic of insurance coverage and justification letters for cancer predisposition testing has been the subject of much discussion on the National Society of Genetic Counselors Cancer Special Interest Group (NSGC Cancer-SIG) listserv. Some counselors have stated that they have had difficulty in obtaining insurance coverage for their patients, while others have indicated that they would appreciate seeing examples of successful letters. The purpose of this paper is to provide practical guidance in writing successful letters of justification and to share insurance success stories in the area of cancer genetic testing.     

Toward a Model Informed Consent Process for BRCA1 Testing: A Qualitative Assessment of Women's Attitudes

As an initial part of a project to develop a model informed consent process for BRCA1 testing, we conducted a series of focus groups. At the groups, women initially expressed great interest in testing, but their interest diminished after learning more. If offered testing, women would most want to learn about test accuracy, practical details of testing, and management options if the result was positive. Perceived benefits of testing included gaining information leading to risk reduction, relief of uncertainty, more responsible parenting, and assisting in research. Perceived risks included the discomfort and cost of the testing process itself, and anxiety after a positive result. The risk of possible insurance discrimination was rarely mentioned spontaneously. Many women would want their providers to make recommendations, rather than be nondirective about testing. We observed that women vary greatly in their informational and counseling needs, and suggest that the informed consent process should be individualized, taking into account a woman's perception and her preferences for how testing decisions should be made.     

Development of a Streamlined Work Flow for Handling Patients’ Genetic Testing Insurance Authorizations

Obtaining genetic testing insurance authorizations for patients is a complex, time-involved process often requiring genetic counselor (GC) and physician involvement. In an effort to mitigate this complexity and meet the increasing number of genetic testing insurance authorization requests, GCs formed a novel partnership with an industrial engineer (IE) and a patient services associate (PSA) to develop a streamlined work flow. Eight genetics clinics and five specialty clinics at the University of Michigan were surveyed to obtain benchmarking data. Tasks needed for genetic testing insurance authorization were outlined and time-saving work flow changes were introduced including 1) creation of an Excel password-protected shared database between GCs and PSAs, used for initiating insurance authorization requests, tracking and follow-up 2) instituting the PSAs sending GCs a pre-clinic email noting each patients’ genetic testing insurance coverage 3) inclusion of test medical necessity documentation in the clinic visit summary note instead of writing a separate insurance letter and 4) PSAs development of a manual with insurance providers and genetic testing laboratories information. These work flow changes made it more efficient to request and track genetic testing insurance authorizations for patients, enhanced GCs and PSAs communication, and reduced tasks done by clinicians.