Counselor–counselee interaction in reproductive genetic counseling: Does a pregnancy in the counselee make a difference?

OBJECTIVE: To investigate the influence of a pregnancy and other counselee characteristics on several aspects of counselor-counselee interaction during the initial clinical genetic consultation. METHODS: The consultations, of a group of pregnant women (n = 82) and of a control group of non-pregnant women (n = 58), were compared specifically with regard to differences in global affective tone, extent of psychosocial exchange and women's participation in the decision-making process. Consultations were recorded, and subsequently coded from audiotape by 10 raters. RESULTS: Only two differences in outcome measures were found between the two study groups: the counselor was rated as slightly more nervous in consultations with pregnant women, and in consultations with non-pregnant women fewer decisions were taken. The length of the consultation, the contribution of a counselee's companion to the consultation and counselee characteristics (age, level of education, initiation of referral, affected person, degree of worry and preferred participation in decision-making) were more important in explaining the nature of the interaction. CONCLUSION: Our study yielded no important differences in counselor-counselee interaction during the initial clinical genetic consultation of pregnant versus non-pregnant women regarding the affective tone of the consultation, the degree to which psychosocial issues were discussed and the women's participation in the decision-making process. PRACTICE IMPLICATIONS: Our findings suggest that a negatively affected counselor-counselee interaction is not an important disadvantage in consultations with pregnant women. Given the limitations of our study, however, we advocate further studies on counselor-counselee interaction in reproductive genetic counseling, in order to improve the quality of reproductive genetic counseling.     

Results of a randomized study of telephone versus in-person breast cancer risk counseling

OBJECTIVE: Women of all risk levels have reported high interest in obtaining genetic testing for breast cancer risk. Breast cancer risk counseling may help women to learn about their risk and appropriate options of testing. This study measured the effects of an intervention in-person and by telephone, compared to a control group. METHODS: Participants were 340 women, recruited through a network of primary care physicians. They received a baseline questionnaire in the mail, were randomized to one of the three study arms, and completed a follow-up survey 3 months later. RESULTS: Both types of counseling were very well received. The counseling decreased women's cancer worry, risk perceptions, and intentions to pursue genetic testing. There were similar effects for both in-person and telephone counseling. CONCLUSION: Genetic counseling can be used to inform women at all risk levels about their breast cancer risk. PRACTICE IMPLICATIONS: Breast cancer risk counseling can be done in-person and by telephone--thereby reaching women in remote areas.     

Genetic counseling for BRCA1/2: a randomized controlled trial of two strategies to facilitate the education and counseling process

Due to the complexity of information surrounding BRCA1/2 counseling and testing and its time consuming nature, efforts to facilitate the genetic counseling and education process are needed. Using a 2 x 2 factorial design, two strategies were examined: a CD-ROM program for patients and a feedback checklist to the genetic counselor on patients' prior misconceptions. A total of 197 women attending a breast and ovarian cancer risk evaluation clinic for BRCA1/2 counseling were randomized into one of four conditions: standard care, CD-ROM only, feedback to counselor only, and both CD-ROM and feedback. Counseling outcomes included face-to-face time with the genetics team, knowledge acquisition, changes in worry about having a gene mutation, and genetic testing decisions. Overall, women who viewed the CD-ROM spent less time with the genetic counselor and were less likely to undergo genetic testing compared to women who did not view the CD-ROM. Feedback to the genetic counselor resulted in greater gains in knowledge of genetics and breast cancer. Among women less worried at baseline, those who viewed the CD-ROM showed no changes in worry following genetic counseling, in contrast to those who did not view the CD-ROM who increased in worry over time. This latter finding raises concerns about the impact of the increased worry on genetic testing decisions. No interaction effects of the two intervention arms were found. The study results support the importance of both strategies as valuable supplements to clinical BRCA1/2 counseling.     

Psychological response to prenatal genetic counseling and amniocentesis

The purpose of the present study was to characterize the psychological status (attitudes toward selective abortion, perceived risk, comprehension, patient satisfaction, coping, and state anxiety) of pregnant women at increased risk for fetal genetic anomalies who were referred for prenatal genetic counseling and amniocentesis; to determine which of these factors would predict amniocentesis use; and to identify patient outcomes associated with counseling and testing. Participants were 129 women aged 18 years and older who had one or more fetal genetic risk factors. All were recruited from an urban women's health clinic. The results revealed elevated perceptions of risk and moderate state anxiety despite adequate comprehension of, and patient satisfaction with, the process and content of genetic counseling. Approximately 78% agreed to testing; those who consented were more likely to hold favorable attitudes toward abortion than those who refused. Post-counseling, women experienced decrease in their perceived risk of having a baby born with a birth defect although perceived risk estimates remained higher than actual risks. Anxiety was clinically elevated and highest at the pre-counseling stage, though it dissipated to normal levels over time. Previous experience with prenatal diagnostic testing, increased perceived risk of a birth anomaly, and favorable attitudes toward abortion were independently associated with increased pre-counseling anxiety. Women who were more anxious pre-counseling remained more anxious post-counseling. Coping (high versus low monitoring) was unrelated to anxiety. These findings suggest that women who participate in prenatal counseling and testing may be subject to experience distress and unrealistic perceptions of their risk and may benefit from interventions designed to lessen these states.     

Characteristics associated with genetic counseling referral and BRCA1/2 testing among women in a large integrated health system

BackgroundEvidence shows underutilization of cancer genetics services. To explore the reasons behind this underutilization, this study evaluated characteristics of women who were referred for genetic counseling and/or had undergone BRCA1/2 testing.MethodsAn ovarian cancer risk perception study stratified 16,720 eligible women from the Henry Ford Health System into average-, elevated-, and high-risk groups based on family history. We randomly selected 3,307 subjects and interviewed 2,524 of them (76.3% response rate).ResultsAmong the average-, elevated-, and high-risk groups, 2.3, 10.1, and 20.2%, respectively, reported genetic counseling referrals, and 0.8, 3.3, and 9.5%, respectively, reported having undergone BRCA testing. Personal breast cancer history, high risk, and perceived ovarian cancer risk were associated with both referral and testing. Discussion of family history with a doctor predicted counseling referral, whereas belief that family history influenced risk was the strongest BRCA testing predictor. Women perceiving their cancer risk as much higher than other women their age were twice as likely (95% confidence interval: 2.0–9.6) to report genetic counseling referral.ConclusionIn a health system with ready access to cancer genetic counseling and BRCA testing, women who were at high risk underutilized these services. There were strong associations between perceived ovarian cancer risk and genetic counseling referral, and between a belief that family history influenced risk and BRCA testing.Genet Med advance online publication 19 June 2014     

Genetic counseling and reproductive uncertainty

Of 836 fertile women seeking genetic counseling, 544 (65%) reported that their major reason for doing so was to obtain information to help in deciding if they should have a child. Thirty-four percent of these 836 women entered counseling uncertain about undertaking a pregnancy in the next 2 years. After counseling, 28% of the 836 had uncertain pregnancy intentions. These included 66% of those who were uncertain and 11% of those who were reproductively certain before counseling. Stepwise logistic regression identified the following as independently and significantly associated with reproductive uncertainty after counseling: 1) uncertainty before counseling; 2) uncertainty about ideal family size; 3) concern about the effects of an affected child on the client's social life; 4) perceived serious problems caring for a child with a birth defect now living at home; and 5) new concerns raised in counseling. Reproductive uncertainty after counseling was not related to characteristics of the risked birth defect, level of risk, treatment potential, or client learning of medical and genetic facts. These data suggest that genetic counseling will not eliminate reproductive uncertainty for many clients, because this uncertainty is related to factors mainly outside the usual scope of counseling.     

自然流产妇女的心理健康状况调查分析

目的 了解自然流产妇女的心理健康状况,探索心理因素对自然流产的影响。方法 选取100名发生自然流产的妇女,采用症状自评量表（SCL-90）测评。结果 自然流产的妇女有较多的心理问题,特别是焦虑、抑郁、人际关系敏感、强迫和恐怖较突出。结论 应加强妇女孕前与孕期心理健康教育,对怀孕作好充分的心理准备,避免不良情绪和不良环境刺激,防止因心理原因的自然流产。     

Genetic counseling for women with an intermediate family history of breast cancer

Women with a family history of breast cancer often over-estimate their personal risk for cancer and may view themselves as candidates for genetic testing even when the likelihood of an informative test result is low. We report here on genetic counseling of women with an intermediate family history of breast cancer, defined as women who have one or more biological relatives with breast cancer but whose pedigree suggests a low likelihood of autosomal dominant transmission. A genetic counseling protocol based on traditional genetic counseling strategies was developed with additional components added to address the needs of women with moderately increased breast cancer risk. These additional components included information about non-genetic risk factors, comparisons of high and moderate risk pedigrees, and evaluation of personal risk based on both genetic and nongenetic risk factors. Most participants liked the genetic counseling and found it useful. At baseline, participants over-estimated both their personal risk of breast cancer and that of the average woman. After counseling, estimates of personal and average risk of breast cancer were lower, although both remained higher than actual risk. Most participants reported that they felt less worried about breast cancer after receiving their personal-risk estimate. At baseline, most women judged themselves to be candidates for genetic testing and expressed interest in testing. The number who considered themselves candidates for testing was reduced after counseling (60% versus 82%) but still constituted a majority. Similarly, interest in testing was partially reduced by counseling (60% versus 91%). We conclude that genetic counseling can help women with an intermediate family history of breast cancer to develop more accurate views of their risk, reduce their breast cancer worry, and aid some of them in developing a more realistic view of genetic testing.     

Contraception: from accessibility to efficiency

BACKGROUND: Despite the widespread use of medical contraception in France, the prevalence of abortion remains stable. A cross-sectional population-based survey was designed to study the characteristics of current contraceptive use in France, the different types of contraceptive failure, and the reasons reported for not using contraception. METHODS: A representative sample of 14 704 French households was randomly selected from the telephone directory. All women who in the last 5 years had had an abortion or whose last pregnancy was unintended were selected (n = 1034), whilst a fraction (n = 1829) of the other women were randomly selected. Altogether, 2863 women answered the questionnaire. RESULTS: Only 2.7% of the women aged 18-44 years who did not wish to conceive and were sexually active did not use any contraception. However, 33% of pregnancies were estimated to be unplanned, of which 50% ended in an abortion. A total of 65% of the reported unplanned pregnancies occurred among women using contraception (21% the pill, 9% IUD, 12% condoms, 23% other method). The main reasons given for these contraceptive failures were the misuse of the methods or the failure of the partner to withdraw. Reasons for not using any contraception go beyond a simple lack of information. CONCLUSIONS: The importance of-and the reasons mentioned for-contraceptive failure show a misadaptation between women's contraceptive needs and the method they use. Improving the training of family planning providers remains a major goal to ensure that women use a contraceptive method that fits their social and sexual lifestyle.     

孕妇HCMV感染及妊娠结局分析

目的了解孕妇感染HCMV后对胚胎、胎儿及妊娠结局的影响.方法采用ELISA方法对4148例长沙地区孕妇进行TORCH-IgM检测.结果在对4148例长沙地区孕妇进行TORCH-IgM检测中,发现有62例孕妇为HCMV-IgM阳性,阳性率为1.5%.在随访的58例孕妇中,妊娠结局为自然流产者达31%(18/58);为死胎及胎儿畸形者达19%(11/58),显著高于其他异常妊娠结局者(P＜0.001).结论HCMV宫内感染是导致胚胎和胎儿自然流产的主要原因之一,同时也是导致胎儿宫内死亡、畸形发生的主要原因.因此,提高孕妇免疫能力,加强孕期健康教育,避免和减少易感因素的接触,是降低胎儿宫内感染的主要措施;另外,大力推广孕前优生检测也是防止胎儿宫内感染发生的重要手段.     

Extracellular Matrix Protein-dependent Apoptosis of T Cells in Women with a History of Recurrent Spontaneous Abortion

PROBLEM: The purpose of the study was to determine the role of T-cell apoptosis in extracellular matrix (ECM) environment in pregnancy maintenance in women with a history of recurrent spontaneous abortion (RSA). METHOD OF STUDY: Thirty-nine non-pregnant women with the history of RSA (anatomic, genetic, endocrine and microbiologic causes were excluded) and 22 healthy women with the previous successful pregnancy outcome were studied. In addition, 21 women with the history of RSA were also studied at the beginning of their next pregnancy. We studied apoptosis of peripheral blood T cells after culture with monoclonal antibody (mAb) OKT-3 alone or with mAb OKT-3 following ECM proteins: collagen IV (C-IV) or fibronectin (Fn). We used Cell Death Detection ELISA for studying cell death in cell population. In addition, apoptotic peripheral blood T cells were identified by annexin V-PE staining protocol using flow cytometry. CD29+ and CD95+ T-cell surface receptors were also analyzed by flow cytometry. RESULTS: The significantly higher values of enrichment factor: mU of the sample (dying/dead cells) per mU of the corresponding control (viable cells) were observed after peripheral blood T-cell culture with C-IV (P = 0.0002) or Fn (P = 0.004) in samples of non-pregnant women with the history of RSA when compared with control women. The significantly higher values of enrichment factor were observed after peripheral blood T-cell culture with C-IV in samples of pregnant women with the history of RSA with successful pregnancy outcome when compared with pregnant women with the history of RSA with failed pregnancy outcome (P = 0.01). However, the percentage of apoptotic T cells stained by annexin V was significantly lower in non-pregnant RSA women compared with control (P = 0.0001). CD95 expression was significantly lower in non-pregnant RSA women compared with control (P = 0.01). CONCLUSIONS: Apoptosis of T cells might be an interesting possible explanation of successful pregnancy outcome in women with the history of RSA.     

Reasons women give for abortion: a review of the literature

The aim was to identify from empirical research that used quantitative or qualitative methods the reasons women give for having an abortion. A search was conducted of peer-reviewed, English language publications indexed in eight computerized databases with publication date 1996–2008, using keywords ‘abortion’ and ‘reason’ (Medline: ‘induced abortion’ OR ‘termination of pregnancy’ OR ‘elective abortion’ and ‘reason’). Inclusion criteria were empirical research on humans that identified women’s reasons for undergoing an abortion, conducted in ‘high-income’ countries. 19 eligible papers were found. Despite variation in methods of generating, collecting, and analysing reasons, and the inadequacy of methodological detail in some papers, all contributed to a consistent picture of the reasons women give for having an abortion, with three main categories (‘Woman-focused’, ‘Other-focused’, and ‘Material’) identified. Ambivalence was often evident in women’s awareness of reasons for continuing the pregnancy, but abortion was chosen because continuing with the pregnancy was assessed as having adverse effects on the life of the woman and significant others. Women’s reasons were complex and contingent, taking into account their own needs, a sense of responsibility to existing children and the potential child, and the contribution of significant others, including the genetic father.     

GM-CSF and pregnancy: evidence of significantly reduced blood concentrations in unexplained recurrent abortion efficiently reverted by intravenous immunoglobulin treatment

PROBLEM: Certain Th-2 cytokines and granulocyte-macrophage colony-stimulating factor (GM-CSF) are propitious for the success of pregnancy and recurrent spontaneous abortion (RSA) is often characterized by a failure of Th-2 type responses. These considerations as well as the use of intravenous immunoglobulin (IVIg) in RSA induced us to evaluate the levels of GM-CSF in normal pregnancies, in pregnant women affected with unexplained RSA and the effects of IVIg treatment. METHOD OF STUDY: Peripheral blood free GM-CSF was measured by means of a sandwich enzyme immunoassay in 39 healthy women (13 non-pregnant, 26 pregnant) and in 53 RSA patients (11 non-pregnant, 42 pregnant). In 14 pregnant RSA patients GM-CSF was studied also after the very first IVIg infusion (0.5 g/kg body weight). RESULTS: In healthy women we found a significant increase of GM-CSF during pregnancy, in pregnant RSA patients such an increase was not detected. After IVIg, GM-CSF concentrations were almost doubled. CONCLUSIONS: GM-CSF is found increased in normal pregnancy and is very low during pregnancy in RSA. IVIg infusions are capable of increasing GM-CSF in pregnant recurrent aborters.     

Health beliefs among African American women regarding genetic testing and counseling for sickle cell disease.

PURPOSE: The Health Belief Model can help in understanding low acceptance of disease prevention and screening. We studied health beliefs of African American women to determine causes of low acceptance of genetic testing and counseling despite high prevalence of sickle cell disease and heterozygotes in this population. METHODS: An anonymous questionnaire using a 12-question measure with a 5-point Likert scale response was administered to 101 African American women attending an obstetrics and gynecology clinic to determine knowledge of sickle cell disease, perception of risk, severity, likelihood of benefit and barriers to counseling. RESULTS: The cumulative mean perceived scores on the 5-point Likert scale were 4.22 +/- 0.88 for severity of sickle cell disease, 4.10 +/- 1.03 for benefit of genetic testing, 2.28 +/- 1.00 for barriers to testing, and 2.62 +/- 1.06 for risk of having a child with sickle cell disease. High average level knowledge was associated with high perception of severity and benefit to screening (P < 0.05). CONCLUSION: African American women have a relatively high belief of the severity of sickle cell disease and benefits of genetic counseling but frequently do not appear to believe that they are at risk of having a child with the disease. This should be taken into account in the design of educational and counseling strategies.     

Genetics and genetic counseling: practices and opinions of primary care physicians in Turkey.

PURPOSE: The purpose of this study was to assess the educational needs of physicians relating to genetics and genetic counseling in the Denizli region of Turkey. METHODS: Data were collected by questionnaire about physicians' approaches to genetics and genetic counseling. RESULTS: A total of 60 (60.0%) of 100 physicians working in Denizli province returned a questionnaire. Physicians described "their most knowledgeable subjects" in basic genetic information as chromosome abnormalities (41.8%), in genetic disorders as xeroderma pigmentosum (80.0%), and in genetic counseling as directing the parents of and couples with a risk for having a child affected by a genetic disease to an expert or a genetic counseling center (94.8%). Only 20.7% knew the ethical regulations and techniques related to genetic counseling. Physicians thought that they did not have sufficient knowledge about genetics or genetic counseling, and 83.9% would like to attend an educational course. CONCLUSIONS: As a result of this study, a genetics course is planned for physicians so they can actively participate in the prevention and early diagnosis of genetic diseases.     

A randomized trial comparing alternative approaches to prenatal diagnosis counseling in advanced maternal age patients

Prenatal diagnosis (PND) is offered routinely as part of pregnancy care to a large number of women at increased risk of fetal anomalies. Despite an extraordinary growth in the use of PND and significant resource allocation, few studies have examined outcomes of PND counseling, and virtually no research has evaluated the relative efficacy of various approaches to genetic counseling. This study was a randomized trial that compared which counseling methods - individual, group, and use of a decision aid - are effective in PND counseling for women of advanced maternal age (>/=35 years) and their partners. Three hundred and fifty-two women and 225 partners completed pre- and post-intervention questionnaires assessing changes in knowledge, decisional conflict, state anxiety, satisfaction, use of PND, and pregnancy outcomes. All participants showed a significant increase in knowledge and a decrease in decisional conflict post intervention. Those in the group intervention showed a significantly greater increase in knowledge than those in the individual counseling intervention. While high levels of satisfaction were reported by all, those in individual counseling were significantly more satisfied than those receiving group counseling or the decision aid. This study has shown unique benefits with each type of intervention such that women and their partners preferred individual genetic counseling, while they learned best in group-counseling sessions, and experienced the least decisional conflict regarding genetic testing with a decision aid.     

Use and non-use of genetic counseling after diagnosis of a birth defect

We examined factors and experiences associated with parents' use or non-use of genetic counseling services within 5 years of the diagnosis of a birth defect in their child. Eligible parents were identified using birth defects data for births in 2004 in Victoria, Australia, and invited to complete a written questionnaire and optional telephone interview. Participants were asked about sources of genetic information, experiences and satisfaction with obtaining this information, and impressions of genetic services. Reasons given for not attending genetic counseling services included not knowing the service was available, or not feeling a need to attend. Non-users commonly stated they would not consider termination of pregnancy for the type of birth defect experienced or that they obtained information from other sources, such as pediatricians. This study indicates that parents, whose child has been diagnosed with a birth defect, could benefit from being informed about available genetic counseling services. The results show that some non-users of genetics services may have misconceptions about the purpose of genetic counseling and correcting these may increase utilization. This is important in order to ensure all parents receive sufficient information and support after diagnosis of a birth defect in their child.     

A pilot intervention for pregnant women in Sichuan, China on passive smoking

OBJECTIVE: The study aimed to reduce women's exposure to passive smoking, which has been linked to increased risk of cancer and other diseases. By exploring the knowledge, attitudes and behaviors of pregnant women with regard to secondhand smoke in the home environment, a model for intervention during the pregnancy was designed with the help of the intended beneficiaries and was piloted. METHODS: The study had two phases. Phase 1 included focus group discussions and an iterative process to design an intervention. Phase 2 was the intervention itself, which included a series of motivational and patient communication activities, a resource booklet, clinician counseling, telephone hotline and regular telephone counseling. Pre- and post-intervention questionnaires were used to measure results. RESULTS: Post-intervention questionnaires showed a significant increase in knowledge, a change in attitudes towards stronger disapproval and an increased likelihood of taking assertive action when exposed to secondhand smoke in the family. PRACTICE IMPLICATIONS: The results of this study point to the fact that there is a need to give emphasis to passive smoking in the home environment and that the women's pregnancy is an effective conduit to increasing knowledge and bringing about change. The intervention model can become a part of the standard protocol for the care of pregnant women in hospital settings.     

Results of a randomized study of telephone versus in-person breast cancer risk counseling

ObjectiveWomen of all risk levels have reported high interest in obtaining genetic testing for breast cancer risk. Breast cancer risk counseling may help women to learn about their risk and appropriate options of testing. This study measured the effects of an intervention in-person and by telephone, compared to a control group.MethodsParticipants were 340 women, recruited through a network of primary care physicians. They received a baseline questionnaire in the mail, were randomized to one of the three study arms, and completed a follow-up survey 3 months later.ResultsBoth types of counseling were very well received. The counseling decreased women's cancer worry, risk perceptions, and intentions to pursue genetic testing. There were similar effects for both in-person and telephone counseling.ConclusionGenetic counseling can be used to inform women at all risk levels about their breast cancer risk.Practice implicationsBreast cancer risk counseling can be done in-person and by telephone – thereby reaching women in remote areas.     

Breast cancer risk counseling improves women's functioning

Helping people cope with health risks is an important area for research and practice. Counseling offers people the opportunity to relieve their distress and improve the ways in which they manage their health issues. This study was a randomized test of two different counseling methods, genetic and psychosocial counseling, compared to a control group. Eligibility requirements included being between 18 and 74 years old, having at least one relative with breast cancer, not having a family history consistent with carrying a BRCA1/2 mutation for breast cancer risk, having no personal history of breast or ovarian cancer, living within 60 miles of the research institute, and willingness to complete the research requirements of the project. Perceived risk decreased by 50% for participants in the two counseling groups relative to comparison participants. Cancer worry decreased in both counseling groups by one scale point (P < 0.05). These results indicate that counseling can relieve women's negative reactions to breast cancer risk.