Attitudes toward genetic testing for cystic fibrosis among college students

The knowledge and attitudes of 25 college students toward clinical and genetic aspects of cystic fibrosis (CF) were assessed before and after an 80-minute presentation about the disease. The students were asked about their plans regarding genetic testing for cystic fibrosis prior to, and during future conceptions. While their knowledge about the disease increased significantly following the lecture, there were no significant changes in their attitudes.     

A comparison of two approaches to education about carrier testing for cystic fibrosis

We tested the efficacy of two types of educational materials for genetic counseling: a traditional information brochure and one adding a role model story. Brochures were alternated weekly at a prenatal genetics center. Subjects were asked to read the brochure and fill out a questionnaire covering demographics and variables from the health belief model (impact, barriers, motivation, susceptibility, knowledge, severity). A group of 409 pregnant women and 251 male partners participated. Study design was quasiexperimental, using a post-test only comparison group. The brochure with modeling enhanced the perception of both risk and the severity of the disease and was inversely associated with the assessment of barriers, but did not directly impact on the decision to pursue testing; only 12% chose to be tested, with no significant differences between groups. While suggestive, the study is not confirmatory and should be repeated with a more heterogenous group of women.     

Education and testing strategy for large-scale cystic fibrosis carrier screening

Population-based screening for cystic fibrosis carrier mutations presents a number of challenges for genetic counselors, owing primarily to the inability of current DNA testing technology to identify all possible mutations and the difficulty involved in conveying the concept of residual risk to those patients who test negative. To address these issues, we are conducting a pilot study, as part of a consortium established by the National Center for Human Genome Research, to explore the efficacy, acceptance, and psychosocial impact of various approaches to carrier screening in an ethnically diverse Southern California population. This article reports the patient instructional and screening strategies we developed in the initial phase of the project in order to optimize our chances of answering these questions and delivering this service on a large scale.     

Attitudes of high school students toward carrier screening and prenatal diagnosis of cystic fibrosis

The identification of the common mutations of the cystic fibrosis (CF) transmembrane conductance regulator gene has made it feasible to consider population-based CF carrier screening. However, the demand for such programs will depend largely on the attitudes and perceptions of the general public toward genetic testing. As part of a high school science project, we initiated studies to determine the attitudes of high school students toward carrier screening for CF and other genetic disorders. From a class of 120 biology students, 101 consented to participate in the study. Most of the students were of European ancestry and there were no known family histories of CF. Buccal swabs were obtained for PCR amplification and heteroduplex detection of the most common CF mutation (F508). The students and their corresponding buccal swabs were assigned random numbers and the results were kept confidential unless the student requested his/her test result. A questionnaire was used to assess the students' attitudes toward carrier screening and prenatal diagnosis. This questionnaire was given both before testing and after the class was informed that three individuals were carriers of the F508 mutation. Overall, the data indicate that high school students are receptive to the concepts of carrier screening and prenatal diagnosis. However, their attitudes changed considerably when informed of the possibility that they might actually be a F508 carrier, with marked increases in the level of indecision. At the conclusion of the study, very few students (5/101) requested information about their F508 carrier status.     

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.     

Newborn screening for cystic fibrosis: Educational implications

We examined the educational implications of newborn screening for cystic fibrosis (CF) as performed by combining the measurement of immunoreactive trypsin with analysis for the most common CF mutation, F508. Four out of 77 (5%) of maternity staff from 11 hospitals in rural New South Wales, Australia had learned about the salient features of the screening protocol from a pamphlet distributed from a central laboratory. In comparison, a didactic lesson resulted in a significantly greater (p<0.00006) number of maternity staff learning about the salient features of the screening protocol. Most maternity staff expanded their explanation to parents of newborn babies because of the didactic lesson.     

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.     

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.     

Family and childhood adjustment in cystic fibrosis

Family adaptation has been commonly associated with the psychological adjustment of chronically ill children. However, few studies have attempted to systematically evaluate this association and its relationship to illness severity. We studied 44 children ages 7 to 15 and their families at a large cystic fibrosis center and obtained measures of 1) impact of illness on the family; 2) family functioning; 3) behavioral adjustment; 4) social competence; 5) ratings of anxiety, depressive, and eating disorder symptoms; and 6) ratings of illness severity and duration. Impact of illness on the family and overall family dysfunction were significantly correlated with illness severity, but not duration. However, impact of illness on the family was significantly correlated with internalizing behavioral symptoms, while family dysfunction was correlated with depressive symptomatology. These findings suggest that illness-related stress is primarily reflected in general emotional and behavioral symptoms, with familial adaptation either ameliorating or exacerbating their development into depressive symptomatology.     

Reproductive issues in adults with cystic fibrosis: Implications for genetic counseling

This article reviews reproductive issues faced by the growing number of individuals with cystic fibrosis (CF) who reach adulthood. Approximately 97–98% of males with CF are infertile and they may have an increased risk for genitourinary anomalies. Females with CF may experience delayed puberty, irregular menstrual cycles, and decreased fertility. Women with CF who have good clinical scores, good nutritional status, and normal lung volumes with mild to moderate airway obstruction, have a better chance for successful pregnancies. The role of the genetic counselor in counseling adults with CF is discussed and resources for CF adults are provided.     

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.     

Newborn Screening for Cystic Fibrosis: Parents’ Preferences Regarding Counseling At the Time of Infants’ Sweat Test

Newborn screening (NBS) protocols for cystic fibrosis (CF) are the first regional population-based programs to incorporate DNA analysis into their procedures. Research about these programs can inform policy and practice regarding how best to counsel families with abnormal NBS results. The grounded theory method guided interviews with 33 families whose infants had abnormal CF NBS results. A dimensional analysis of these interviews provided a theoretical framework describing parents’ preferences regarding counseling during their infant's sweat test appointment. This framework describes the contexts and characteristics of the two main dimensions of parents’ preferences: factual information and emotional support. Factual information included learning about the probability of a CF diagnosis, CF disease facts, sweat test procedure, and CF genetics. Social support consisted of offering parents a choice about the timing and amount of CF information, showing empathy for their distress, instilling hope, personalizing counseling, and providing hospitality. This framework also explains the consequences of counseling that matched versus mismatched parental preferences in these domains. Counseling that matched parents preferences reduced parents’ distress while mismatched counseling tended to increase parents’ worry about their infant.     

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.     

Policy Recommendations for Carrier Testing and Predictive Testing in Childhood: A Distinction That Makes a Real Difference

The genetic testing of children raises many ethical concerns. This paper examines how five position statements from Canada, UK and USA, which present guidelines for good practice in this area produce different recommendations for carrier testing and predictive testing. We find that the genetic information generated through carrier testing is routinely presented as less serious than that generated from predictive testing. Additionally, the reproductive implications of predictive testing are also routinely erased. Consequently, the papers argue strongly against predictive testing but advise caution against carrier testing in somewhat weaker terms. We argue that these differences rest on assumptions about the status of reproduction in people’s lives and on an ethical stance that foregrounds the self over others. We propose that questioning the crude and sharp distinction between carrier and predictive testing in principle may enable practitioners and parents/families to make more nuanced decisions in practice. Parts of this work have been presented in the 1st International CESAGen Conference, London, 2004, and Genetics and Society Meetings, Wales.     

A retrospective survey of community based utilization of Tay Sachs screening in Eight New Jersey counties

The purpose of this study was to determine the rate of utilization of Tay Sachs disease screening by the Ashkenazi Jewish population. Pregnant women who were referred to one of three genetic centers in New Jersey for amniocentesis unrelated to Tay Sachs screening were the study population. 4490 charts were reviewed retrospectively to determine the at risk population for Tay Sachs disease (Ashkenazi Jews) and whether or not patients and their spouses had elected Tay Sachs screening prior to referral. A group of 25 patients who did not elect screening were questioned as to their specific reason for declining Tay Sachs screening. Overall community utilization was 90%. Of the couples who did not elect screening, 64% felt that their risk to have an affected child was too small, 16% could not recall Tay Sachs screening being offered to them, 8% felt that screening was inconvenient. Tay Sachs screening as a voluntary preventive health care program has a high utilization rate in our study group.     

Effectiveness of a Cognitive Behavioral Intervention for Young Adults with Cystic Fibrosis

This study examined the effectiveness of a cognitive behavioral intervention for young adults with cystic fibrosis (CF). Four young adults were referred for the therapy by medical staff because of perceived problems with anxiety, anger, or coping. Treatment impact was assessed on measures of anxiety, anger, perceptions of functional disability, and coping. A multiple baseline design across subjects was used. Overall, the impact of the cognitive behavioral intervention for young adults with CF was mixed. If participants had elevated baseline scores on anxiety, anger, or perceived functional disability, then some improvement was shown. However, only one participant had elevated baseline anxiety and anger scores, while two had higher functional disability scores. For coping, only one participant clearly displayed a greater use of approach relative to avoidance coping by the end of treatment. Results are discussed in terms of treatment implications, assessment, and coping issues.     

Threat to Parental Role: A Possible Mechanism of Altered Self-Concept Related to Carrier Knowledge

Researchers and clinicians have suggested that learning one is a carrier for a genetic disorder has the potential to alter self-concept. Concerns about self-concept have influenced the development of policies regarding the availability of carrier testing for minors and the informed-consent process. A literature review identified three mechanisms through which self-concept has been proposed to be affected: altered perception of genetic identity, diminished social identity, and an altered perception of health. This paper presents a conceptual framework developed from identity theory and the self's response to threat to propose a fourth mechanism: threat to the parental role. Clarification of the role of self-concept, the threat to self-concept related to carrier knowledge, and coping behaviors activated in response to this threat would help to target appropriate genetic counseling interventions.     

Molecular carrier testing for the fragile X syndrome: Issues for genetic counselors

Molecular analysis of the fragile X (FMR-1) gene identifies female fragile X carriers, but appropriate genetic counseling can only be provided if the limitations of the testing methods are understood. Molecular analysis of this gene is achieved with both the polymerase chain reaction (PCR) and Southern blot techniques. PCR is faster and can determine the actual number of CGG repeats, which modifies genetic counseling substantially. However, for a sizeable percentage of women, PCR alone is not conclusive, and Southern analysis is necessary to complete the study. While this procedure takes longer, it is usually conclusive. Women who present for genetic counseling and carrier testing in the second trimester of pregnancy need this information quickly, and for them the turn-around time is paramount. It is critical that genetic counselors understand these methods so that they can educate their clients and facilitate appropriate follow-up.     

Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors

The objective of this document is to provide recommendations for genetic counseling and screening for consanguineous couples (related as second cousins or closer) and their offspring with the goals of1. providing preconception reproductive options2. improving pregnancy outcome and identifying reproductive choices3. reducing morbidity and mortality in the 1st years of life, and4. respecting psychosocial and multicultural issues.The recommendations are the opinions of a multicenter working group (the Consanguinity Working Group (CWG)) with expertise in genetic counseling, medical genetics, biochemical genetics, genetic epidemiology, pediatrics, perinatology, and public health genetics, which was convened by the National Society of Genetic Counselors (NSGC). The consensus of the CWG and NSGC reviewers is that beyond a thorough medical family history with follow-up of significant findings, no additional preconception screening is recommended for consanguineous couples. Consanguineous couples should be offered similar genetic screening as suggested for any couple of their ethnic group. During pregnancy, consanguineous couples should be offered maternal–fetal serum marker screening and high-resolution fetal ultrasonography. Newborns should be screened for impaired hearing and detection of treatable inborn errors of metabolism. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. The professional judgment of a health care provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations.