Attitudes toward the genetic testing of children among adults in a Utah‐based kindred tested for a BRCA1 mutation

Advances in molecular biology and genetics have led to the identification of the breast/ovarian cancer susceptibility genes BRCA1 and BRCA2, along with tests to detect mutations in these genes. Although the appropriateness of BRCA1/2 genetic testing for children has been debated in the literature, little is known about the attitudes of individuals who have undergone cancer susceptibility testing. The present study focused on attitudes toward BRCA1 testing for children among 218 adults from a Utah‐based kindred who had received BRCA1 test results. Results indicated that approximately one‐fourth of the participants would permit BRCA1 testing for children under the age of 18. General attitudes about genetic testing were predictive of attitudes toward the testing of children. In addition, men and individuals without a BRCA1 mutation were more likely to agree that minors should be allowed BRCA1 testing. Individuals whose mother had been affected with breast cancer were less likely to permit testing for minors. Among parents of minor children, less than one‐fifth indicated that they would want BRCA1 testing for their own children; carrier status was not predictive of attitudes toward testing their own children. As breast/ovarian cancer susceptibility testing continues to be disseminated into clinical settings, there may be an increase in the number of test requests for minors. The findings of the present study represent an important step in exploring attitudes about genetic testing of children among individuals who have received cancer susceptibility test results. Am. J. Med. Genet. 92:25–32, 2000. © 2000 Wiley‐Liss, Inc.     

Attitudes to reproductive genetic testing in women who had a positive BRCA test before having children: a qualitative analysis

The scope of conditions for which preimplantation genetic diagnosis (PGD) is licensed has recently been expanded in the United Kingdom to include genetic predisposition to adult-onset cancer. This qualitative interview study explores reproductive decision making, knowledge of and attitudes to reproductive genetic testing (prenatal diagnosis and PGD) with 25 women aged 18-45 years who received a positive BRCA test in the United Kingdom before having children. In this cohort of younger women, BRCA testing was motivated by risk management decisions; for some, BRCA status has affected their later decisions about having children. The perceived severity of hereditary breast/ovarian cancer (HBOC) influences thoughts about passing on the mutation to children and willingness to consider reproductive genetic testing, but most participants do not believe HBOC is a condition for which pregnancy termination is justified. PGD is considered more acceptable and advantageous because it would prevent transmission to future generations, but women have concerns about selecting embryos and the fact that they and affected family members would not have been selected. Women would also be deterred by the need to undergo in vitro fertilisation (IVF) and ovarian stimulation for PGD. Awareness of reproductive testing options was very variable among the cohort. The findings highlight the complexities of reproductive decision making for young women who knowingly carry a BRCA mutation, and the dilemmas inherent to reproductive genetic testing when the condition being tested for also affects a prospective parent. Counselling and psychological support for BRCA-positive women and couples concerning reproductive options are strongly indicated.     

Interest in genetic testing among first-degree relatives of breast cancer patients

The recent cloning of a breast-ovarian cancer susceptibility gene (BRCA1), and determination of the locus of a related gene (BRCA2), offers potential for clinical genetic testing for breast cancer susceptibility. This study examined interest in and expectations about an impending genetic test among first-degree relatives (FDRs) of breast cancer patients. One hundred five females completed two structured telephone interviews to assess demographics, breast cancer risk factors, psychological factors, and attitudes about genetic testing for breast cancer susceptibility. Overall, 91% of FDRs said that they would want to be tested, 4% said they would not, and 5% were uncertain. The most commonly cited reasons for wanting genetic testing were to learn about one's children's risk, to increase use of cancer screening tests, and to take better care of oneself. Women with less formal education were motivated by childbearing decisions and future planning to a greater degree than were women with education beyond high school. Most women anticipated a negative psychological impact of positive test results, involving increased anxiety (83%), depression (80%), and impaired quality of life (46%). In addition, 72% of women indicated that they would still worry if they tested negative. In multivariate regression analysis, level of baseline depression was the strongest predictor of an anticipated negative impact of genetic testing (Beta =.15; P,.0001). These results suggest that the demand for genetic testing for breast cancer susceptibility may be great, even among women who are not likely to have predisposing mutations. Prior to widespread availability of such testing, it will be critical to develop informed consent protocols to educate individuals about the benefits and limitations of predictive testing for this multifactorial disease. © 1995 Wiley-Liss, Inc.     

Attitudes about genetic testing and genetic testing intentions in African American women at increased risk for hereditary breast cancer.

PURPOSE: To evaluate attitudes about the benefits, limitations, and risks of genetic testing for BRCA1 and BRCA2 (BRCA1/2) mutations and explore testing intentions in African American women at increased risk for hereditary breast cancer. METHODS: Attitudes and intentions were evaluated by telephone in African American women (n = 74) at moderate and high risk for having a BRCA1/2 mutation. RESULTS: Attitudes about the benefits of genetic testing were endorsed at a higher rate relative to limitations and risks; however, only 30% of respondents indicated that they would definitely have testing. In regression analysis, women most likely to be considering testing were those with fatalistic beliefs about cancer and those who believed they had a BRCA1/2 mutation. Women who had two or more affected relatives were also most likely to be considering testing. Women who had a personal history of cancer and those who believed they were at high risk for developing breast cancer were most likely to report greater limitations and risks. Pros scores were higher among women older than age 50 and those who were unemployed. CONCLUSION: Although African American women at moderate and high risk for BRCA1/2 mutations report favorable attitudes about genetic testing, interest in testing may be limited. Women affected with cancer and those who believe they are at a higher risk for developing breast cancer may be most concerned about the negative consequences of testing. Increased attention may need to be given to beliefs about genetic testing and testing motivations during genetic counseling with African American women.     

Psychosocial factors predicting BRCA1/BRCA2 testing decisions in members of hereditary breast and ovarian cancer families

Although BRCA1/2 testing has increasingly entered clinical practice, much is to be learned about the most effective ways to provide counseling to persons potentially interested in receiving test results. The purpose of this study was to identify factors affecting genetic testing decisions in a cohort of hereditary breast and ovarian cancer (HBOC) families presented with the choice to undergo testing. Relatives in these families are known to carry BRCA1 or BRCA2 mutations. Sociodemographics, personality traits, and family functioning were self-assessed using validated psychometric instruments at baseline. Among 172 individuals who participated in pretest education and counseling, 135 (78%) chose to undergo genetic testing and 37 (22%) chose not to be tested. Individuals who chose to undergo genetic testing were more likely to be older (> or =40 years), to have lower levels of optimism, and to report higher levels of cohesiveness in their families. A better understanding of factors that influence interest in predictive testing may help to inform the counseling that occurs prior to genetic testing.     

Uptake of BRCA1 rearrangement panel testing: in individuals previously tested for BRCA1/2 mutations.

PURPOSE: Individuals undergoing genetic testing for BRCA1/2 mutations are routinely counseled about the sensitivity and specificity of testing. In August 2002, testing for 5 large genomic rearrangements in the BRCA1 gene that would not have been detected with full gene sequence analysis became commercially available. We present our data on uptake of the BRCA1 rearrangement panel testing in our clinical cancer genetics program. METHODS: Women who participated in our clinical genetic testing program and had previously received an uninformative negative or variant of uncertain significance result from BRCA1/2 full gene sequencing were invited to consider BRCA1 rearrangement panel testing. RESULTS: Overall, 18/72 individuals underwent BRCA1 rearrangement panel testing. No significant differences were found in the levels of BRCAPRO scores (P = 0.406), age at testing (P = 0.986), number of children (P = 0.35) or number of siblings (P = 0.4) between individuals who chose to pursue additional testing with the rearrangement panel and those who declined. Fisher's Exact Test analysis showed that there is a negative association between having breast or ovarian cancer and being inclined to undergo rearrangement panel testing (P = 0.013). CONCLUSION: Individuals who undergo genetic testing will not consistently pursue additional or enhanced genetic testing. Future research is needed to clearly elucidate the factors associated with uptake of additional genetic testing.     

A preliminary validation of a family history assessment form to select women at risk for breast or ovarian cancer for referral to a genetics center

The medical community and general population have become aware that genetic testing is available to look for BRCA1 and BRCA2 mutations. However, criteria for who should be referred for genetic counseling and possible subsequent testing have yet to be determined, and many genetics centers have been overwhelmed by the demand for service. We set out to develop a family history assessment tool (FHAT) that could be used by physicians to select individuals for genetic counseling. Arbitrarily, we chose individuals who would have an approximate doubling of their lifetime risk for breast or ovarian cancer. The FHAT was then applied to 184 unrelated families, with an index patient who had breast or ovarian cancer and who had accepted the offer of BRCA1 BRCA2 testing. Data were compiled to compare the number of individuals who would have been referred for genetic counseling and the number of mutation-positive individuals who would have been screened out from counseling using FHAT, the tables from Claus, and the BRCAPRO system. In this population, FHAT was effective in minimizing both the number of referrals and the likelihood of missing women who were later found to be mutation-positive.     

Parent-child factors and their effect on communicating BRCA1/2 test results to children

The purpose of the present study was to evaluate the likelihood and the effect of parent-child factors on communicating about maternal genetic test results for breast/ovarian cancer risk. Subjects were 42 mothers enrolled in a hereditary breast cancer research program who reported on their interactions with 68 target children. Predictor variables (demographic, clinical, and psychological) were assessed at baseline after mothers participated in a comprehensive genetic counseling/education session and provided a blood sample for BRCA1/2 mutation analysis. Maternal communication of test results to children was assessed 1 month after mothers learned their mutation status. The rate of disclosure to pediatric-age children was 53%. Older children were more likely to be informed of their mothers' test results than were younger children. Maternal disclosure of genetic test results to children was also more likely to occur in the presence of more open parent-child communication styles, though the act of disclosing did not appear to impact communication style. These findings suggest that in addition to developmental phase, family behavioral interactions and communication styles are strongly predictive of whether or not mothers choose to share cancer genetic risk information with their children.     

Communication with close and distant relatives in the context of genetic testing for hereditary breast and ovarian cancer in cancer patients

The psychological aspects of genetic testing for hereditary breast and ovarian cancer (HBOC) in cancer patients (diagnostic genetic testing) have so far received less attention than predictive genetic testing in unaffected persons. Our study is aimed at gaining insight into the psychological aspects of diagnostic genetic testing and at formulating practical recommendations for counseling. Cancer patients often play a key role in the communication of information to relatives because they were the first individuals to be tested in the family. The present article focuses on the communication to close and distant relatives about the hereditary cancer, the genetic test and its result. Participants previously diagnosed with breast and/or ovarian cancer, with a family history of these cancers and who requested DNA-testing, were eligible for the study. Of the 83 eligible patients who could be contacted, 63 participated (response rate = 76%). Twenty-six participants were members of a family where a BRCA1 or BRCA2 mutation was detected. The DNA-analysis in the family of 37 participants had not revealed any mutation. Data were collected by semi-structured interviews and psychological tests and questionnaires. The dissemination of information was largely focused on first-degree relatives. Communication to distant relatives about the genetic test and its result was problematic. Other than the genetic test result and age as "objective" predictors of informing distant relatives, little and/or superficial contact seemed to be the major subjective barrier to informing distant relatives. Furthermore, the knowledge about HBOC of these messengers reveals several shortcomings. Communication within the family should receive special attention during counseling.     

Timing of BRCA1/BRCA2 genetic testing in women with ovarian cancer

PurposeTo determine when, in reference to the course of their treatment, women with ovarian cancer are seen for genetic counseling, as well as to determine what factors influence this timing.MethodsSingle institution retrospective chart review of patients with ovarian cancer who underwent BRCA1/BRCA2 genetic testing.ResultsThirty-three percent of our sample (n = 100) were seen for genetic counseling after ovarian cancer recurrence. In four cases, genetic test results were disclosed to next of kin. Thirty percent of women seen for genetic counseling after recurrence received their initial treatment elsewhere. Women with a history of breast cancer were significantly more likely to be seen for genetic counseling at an earlier phase of their treatment than women with no history of breast cancer.ConclusionWe found that one third of patients with ovarian cancer who underwent genetic testing were seen for initial genetic counseling after disease recurrence. In some cases, genetic counseling took place during the end of life care, with genetic test results disclosed to next of kin. Given the poor prognosis of women with recurrent ovarian cancer, we advocate providing genetic counseling at the time of initial ovarian cancer treatment both in comprehensive cancer centers and in community oncology settings.     

Women's interest in genetic testing for breast cancer susceptibility may be based on unrealistic expectations

We report on results of an interview study assessing women's attitudes toward and hypothetical interest in genetic susceptibility testing for breast cancer. Data are from 246 interviews with women of varying ethnicity (African American, European American, Native American, and Ashkenazi Jewish), family history of breast cancer (negative, positive, and borderline), and educational level. Semistructured interviews included questions on general health beliefs; attitudes, experiences, and concerns about breast cancer; and hypothetical interest in genetic testing. Influence of specific test characteristics was assessed with 14 Likert scales varying negative and positive predictive value, timing of disease, possible medical interventions following a positive result. Results reported include both statistical and qualitative analysis. We found that women had a high level of interest in testing which, in general, did not vary by ethnicity, level of education, or family history. Interest in testing appeared to be shaped by an exaggerated sense of vulnerability to breast cancer, limited knowledge about genetic susceptibility testing, and generally positive views about information provided through medical screening. However, study participants were most interested in a test that didn't exist (high positive predictive value followed by effective, noninvasive, preventive therapy) and least interested in the test that does exist (less than certain positive predictive value, low negative predictive value, and limited, invasive, and objectionable therapeutic options). Our data suggest that without a careful counseling process, women could easily be motivated toward interest in a test which will not lead to the disease prevention they are seeking.     

BRCA1/2 testing in hereditary breast and ovarian cancer families: effectiveness of problem-solving training as a counseling intervention

It remains uncertain whether members of hereditary breast and ovarian cancer (HBOC) families experience psychological distress with genetic testing and whether pre-test counseling can have a moderating effect on client well-being. One purpose of this study was to assess change in psychological well-being from baseline to 6-9 months follow-up and the effect of a problem-solving training (PST) intervention on psychological well-being. Two hundred and twelve members of 13 HBOC families were offered BRCA1/2 testing for a previously identified family mutation. Participants received education and were randomized to one of two counseling interventions; PST or client-centered counseling. Psychological well-being was assessed at baseline and again at 6-9 months following the receipt of test results, or at the equivalent time for those participants who chose not to undergo testing. Well-being was assessed using measures of depressive symptoms (CESD), intrusive thoughts (IES), cancer worries, and self-esteem. Comparisons were made between those who chose testing and those who did not as well as between those who received positive and negative test results. One hundred eighty one participants elected to undergo genetic testing (85%) and 47 of these (26%) were identified as BRCA1/2 mutation carriers. Breast and ovarian cancer worries decreased significantly (p = 0.007 and 0.008, respectively) in those who tested negative while there was no appreciable change in psychological well-being from baseline to follow-up in either those who tested positive or in non-testers. Among all participants, particularly testers, those randomized to PST had a greater reduction in depressive symptoms than those randomized to client-centered counseling (p < 0.05 and p = 0.02, respectively). Regardless of the decision to test, individuals with a personal history of cancer (n = 22) were more likely to have an increase in breast cancer worries compared to those who had never been diagnosed with cancer (p < 0.001). Results suggest that a problem-solving counseling intervention may help to enhance psychological well-being following testing and that a personal history of cancer may increase psychological distress associated with genetic testing.     

Genetic testing for a BRCA1 mutation: prophylactic surgery and screening behavior in women 2 years post testing

Mutations in the BRCA1 gene are associated with an increased risk of breast and ovarian cancer in carrier women. An understanding of behavioral responses to BRCA1 mutation testing by mutation carriers and non-carriers is important to guide the clinical application of this new technology. This study examined the utilization of genetic testing for a BRCA1 mutation in high-risk individuals and the response of tested women with respect to interventions for early cancer detection and prevention. This study assessed the utilization of genetic testing for both men and women in a large kindred and the behavioral responses by women with respect to use of health care interventions during the 2 years following testing. Participants were offered BRCA1 mutation testing. Surveillance behaviors related to breast and ovarian cancer were assessed by computer-assisted telephone interviews at baseline (prior to genetic counseling and testing), 1-2 weeks, 4-6 months, 1 and 2 years after the provision of test results. Mutation carriers, non-carriers, and individuals of unknown mutation status were compared to determine the impact of test results. Utilization of genetic testing for both men and women are reported and, for women, mammography, breast self-exam, clinical breast exam, mastectomy, oophorectomy, transvaginal ultrasound, and CA125 screening were assessed. Of those fully informed of the opportunity for testing, 55% of the women and 52% of the men pursued genetic testing. With respect to mammography for women 40 years and older, 82% of mutation carriers obtained a mammogram in each year following testing compared to 72% of non-carrier women the first year and 67% the second year. This mammography utilization represents a significant increase over baseline for both mutation carriers and non-carriers. Younger carrier women also significantly increased their mammography utilization from baseline. Overall, 29% of the carrier women did not obtain a single mammogram by 2 years post-testing. At 2 years, 83% of the carrier women and 74% of the non-carriers reported adherence to recommendations for breast self-exam and over 80% of carrier women had obtained a clinical breast examination each year following testing. None of the carrier women had obtained a prophylactic mastectomy by 2 years after testing, although 11% were considering this procedure. Of carrier women 25 years of age and older who had at least one intact ovary at the time of testing, 46% of carriers had obtained an oophorectomy 2 years after testing, including 78% of women 40 years of age and older. The majority of carrier women (73%) had discussed their genetic test results with a medical doctor or health care provider. Our results indicate utilization of genetic testing by a majority of high-risk individuals who received information about testing. Both carriers and non-carriers increased their utilization of mammography and breast self-exam following testing. Oophorectomy was obtained by a large proportion of carrier women in contrast to mastectomy which was not utilized within the first 2 years following testing.     

Early use of clinical BRCA1/2 testing: associations with race and breast cancer risk

When BRCA1/2 testing became commercially available in 1996, many U.S. experts voiced concern about the potential for indiscriminate use of testing among low-risk women. Supporting this concern, several early surveys of interest in genetic testing suggested that genetic testing for cancer susceptibility might appeal most to individuals at low risk of carrying a mutation. To identify factors associated with early use of clinical BRCA1/2 testing, a case-control study was conducted at a large academic health system in the metropolitan Philadelphia region. A total of 167 women underwent genetic counseling for clinical BRCA1/2 testing between 1996 and 1997 (cases) compared with 138 women who were seen in faculty general internal medicine practices over the same period (controls). In this study we measured the risk factors for breast cancer, the risk factors for carrying a BRCA1/2 mutation, and sociodemographic characteristics. Use of BRCA1/2 counseling between 1996 and 1997 was positively associated with family but no personal history of breast cancer (odds ratio (OR), 22.4; 95% confidence interval (CI), 9.3-54.3); family and personal history of breast cancer (OR, 150.3; 95% CI, 24.1-939.6); being Caucasian and non-Jewish (OR, 4.1; 95% CI, 1.3-13.5); being Caucasian and Jewish (OR, 8.8; 95% CI, 2.2-35.5); and being married (OR, 3.2; 95% CI, 1.6-6.3). Use of BRCA1/2 counseling was inversely associated with increasing age (OR, 0.07; 95% CI, 0.02-0.28 for >60 compared to <50). As suggested by the association with family history, use of counseling was associated with having a higher predicted risk of breast cancer and a higher predicted risk of carrying a BRCA1 mutation (P < 0.0001). Women who sought clinical BRCA1/2 testing in the year after it became commercially available were not the "worried well," but women at significantly increased risk of carrying a mutation. However, even after adjusting for breast cancer risk, there was a substantial racial disparity in use of BRCA1/2 testing. These findings suggest that ensuring equal access to testing for high-risk individuals irrespective of race may be as important for the future of predictive genetic testing as restricting the use of testing among low-risk individuals.     

Attitudes and distress levels in women at risk to carry a BRCA1/BRCA2 gene mutation who decline genetic testing

Genetic testing enables women at risk for hereditary breast and/or ovarian cancer to find out whether they have inherited the gene mutation, and if so, to opt for undergoing frequent surveillance and/or prophylactic surgery. However, the option to know about one's genetic status is not always seen as a benefit by women at risk. Motives for declining genetic testing were explored in 13 women at 25% or 50% risk to be a BRCA1/BRCA2 mutation carrier, who participated in a surveillance program for breast/ovarian cancer (the non-tested group). We hypothesized that high anxiety might be an important motive to decline testing. In addition, we investigated whether the non-tested group differed from a reference group of women who did undergo the test (tested group; n = 85) with regard to biographical factors, experience with cancer in relatives, and personality traits. Most non-tested women (10/13) were satisfied with participating in the surveillance program. Four reported to feel emotionally unprepared to cope with the consequences of testing. Compared with the tested group, the non-tested women had similar mean distress levels (which were not high), but a higher education level, they were more often childless, showed more reluctance towards prophylactic surgery, were younger when first confronted with a relative affected with breast/ovarian cancer, and were longer aware of the genetic nature of the disease. This study showed that women were more likely to have thoroughly reflected on their decision not to undergo genetic testing, than to deny the whole issue due to high anxiety. Being confronted at a relatively young age with breast/ovarian cancer in a relative, and being aware of the genetic risk for a many years, may have resulted in the risk for cancer becoming an integrated part of their lives. However, generalization of these results to women who neither underwent the test nor participated in a surveillance program should be considered with caution.     

Exploring attitudes,beliefs, and communication preferences of Latino community members regarding BRCA1/2 mutation testing and preventive strategies

PurposeTo inform development of a culturally sensitive hereditary breast and ovarian cancer communication initiative and related clinical genetic services.MethodsFive focus groups were conducted with 51 female and male Latinos. Educational materials were designed to communicate information about hereditary breast or ovarian cancer and availability of relevant clinical services or prevention strategies. Focus groups explored participants' knowledge, attitudes, and beliefs about hereditary breast and ovarian cancer, BRCA1/2 testing, and communication preferences for hereditary breast and ovarian cancer health messages.ResultsOverall, awareness of familial breast and ovarian cancer and availability of genetic risk assessment was low. Once informed, participants held favorable attitudes toward risk assessment and counseling services. Critical themes of the research highlighted the need to provide bilingual media products and use of a variety of strategies to increase awareness about hereditary cancer risk and availability of clinical genetic services. Important barriers were identified regarding family cancer history communication and cancer prevention services. Strategies were suggested for communicating cancer genetic information to increase awareness and overcome these barriers; these included both targeted and tailored approaches.ConclusionThis research suggests that cancer genetic communication efforts should consider community and cultural perspectives as well as health care access issues before widespread implementation.     

Effects of spouses on distress experienced by BRCA1 mutation carriers over time

Concerns about psychological distress have arisen regarding genetic testing for susceptibility to late-onset diseases such as breast and/or ovarian cancer. Early results do not show large-scale psychological distress among those tested; therefore, research is now focusing on identifying subgroups that may be at risk for negative outcomes. Social support has been shown to buffer both negative physical and psychological outcomes in health research. The role of spouses as part of the tested person's social support system is shown to be significant in a sample of 57 BRCA1 mutation carriers. Separately, the tested person's perception of his/her spouse's anxiety and his/her perception of the spouse's support at the time of testing are predictive of the tested person's psychological distress up to 2 years after testing. The interaction of the two variables is even more predictive. For those tested who perceived their spouse to be both anxious and nonsupportive at the time of testing, distress levels reached clinically significant levels 1 week after results were received and remained above clinical threshold measured 4 months, 1 year, and 2 years after testing. While the effects were greatest for women, they were significant for both male and female carriers. These findings are an important addition to the literature and will augment clinicians' ability to identify individuals potentially at risk for negative responses to adverse genetic test results.     

Psychological and social determinants of women's decisions to undergo genetic counseling and testing for breast cancer

This study examined the demand for breast cancer genetic testing and counseling among Canadian women diagnosed with breast cancer under the age of 50, together with some of the factors predicting both their intentions to be tested and the degree to which they act on their intentions. Participants were 110 women under the age of 50 and comprised of two groups: 1) women diagnosed with breast cancer (BC, n = 60): and 2) an index group of unaffected women from the general population (GP, n = 50). All participants completed a survey that addressed family history of breast and other cancers, demographic variables, knowledge and attitudes about breast cancer, and genetic testing. Members of the BC group were offered genetic counseling and testing for BRCA1 and BRCA2 free of charge. Overall, 60% of participants indicated they would like the test, and 40% either did not want it or were uncertain. Seventy-two percent of women in the BC group wanted to be tested. Of these, only 49% had actually contacted the genetic counselor about testing at follow-up 3-15 months later. Intention to be tested was associated with presence of breast cancer, greater perceived benefits of testing, fewer perceived 'costs' of testing, and higher levels of concern about the risk of relatives developing breast cancer. Actual arranging to meet with the genetic counselor among women in the BC group was associated with fewer perceived costs of having the test. Results suggest a moderate level of interest in gene testing, though intention to be tested may not translate into actual uptake. Women who do choose to have the test may believe the potential 'costs' of using this new genetic technology to be relatively few. This has implications for genetic counselors in terms of providing balanced and complete information to women considering genetic testing for breast cancer susceptibility.     

Parental preferences for CDKN2A/p16 testing of minors

PurposeGenetic testing of minors is controversial, as ethical considerations depend on multiple aspects of the particular disease and familial context. For melanoma, there is a well-established and avoidable environmental influence and a documented benefit of early detection.MethodsWe surveyed 61 CDKN2A/p16 mutation-tested adults from two kindreds about their attitudes toward genetic testing of minors immediately posttesting and 2 years later.ResultsOverall, 86.9% expressed support of melanoma genetic testing of minors, with the importance of risk awareness (77.4%) and the likelihood of improved prevention and screening behaviors (69.8%) as the most frequently cited potential benefits. Among mutation carriers, 82.6% wanted genetic testing for their own children. These preferences remained stable over a 2-year period. Most respondents (62.3%) favored complete involvement of their children in genetic counseling and test reporting; 19.7% suggested that children be tested but not informed of the results. Concerns about inducing psychological distress or compromising children's decision autonomy were infrequently cited. Testing preferences did not vary by respondent age, gender, or melanoma history.ConclusionRespondents strongly supported melanoma genetic testing of minors, with most citing improved health behavior as a likely outcome. We discuss options for melanoma genetic counseling and testing of minors.