Effectiveness Of Genetic Counseling Research Articles

The man behind the honors Dr. P. M. MacLeod MD FRCPC FCCMG DABG.

The man behind the honors Dr. P. M. MacLeod MD FRCPC FCCMG DABG.

Effects of genetic counseling on psychophysical condition of the pregnant women : A case report

Effects of genetic counseling on psychophysical condition of the pregnant women : A case report

Effect of genetic counseling on detection of Lynch syndrome (LS) in colorectal cancer (CRC) patients (pts).

419 Background: LS, characterized by germline mutations in MLH1, MSH2, MSH6, or PMS2, leads to defective DNA mismatch repair (dMMR) and causes 2%-3% of CRC cases. Ohio State University (OSU) began immunohistochemistry (IHC) screening on all CRC cases in 2006. In 2006 results were reported in pathology reports without further follow-up. From 2007 to 2010 genetic clinic (GC) counselors contacted pts and recommended further testing. Since 2011, GC counselors met pts at a follow-up appointment. This retrospective study aims to assess if type of follow-up after abnormal IHC, affects rate of conclusive testing. Methods: All CRC pts diagnosed at OSU from 03/06-06/12 had MMR testing per IHC. All pts’ charts were reviewed. Conclusive testing, following the initial MMR IHC, includes either MLH1-hypermethylation testing and/or gene sequencing to identify LS from non-LS pts. Chi-square test was used for categorical parameters and t-test for continuous variables to compare differences between pts with conclusive test vs those without. Results: One-hundred and twenty two tumors of 777 (15.7%) tested had dMMR by IHC. The GC follow-up of abnormal results significantly affected the rate of conclusive testing. The rate of conclusive testing went from 14.3% in 2006 to 38.4% in 2007-2010 and after 2011, 90.5% of the pts had conclusive testing done. Among 51 pts undergoing full testing, 13 pts were diagnosed with LS, 29 pts had MLH1-hypermethylated tumors, and 9 pts were not found to have any mutations on gene sequencing. Conclusions: Conclusive testing rates after abnormal universal screening with IHC improved significantly with GC involvement and was most effective when GC counselors met with the pts during their appointment. [Table: see text]

Effect of Pre‐test Genetic Counseling for Deaf Adults on Knowledge of Genetic Testing

Empirical data on genetic counseling outcomes in the deaf population are needed to better serve this population. This study was an examination of genetics knowledge before and after culturally and linguistically appropriate pre-test genetic counseling in a diverse deaf adult sample. Individuals ≥18 years old with early-onset sensorineural deafness were offered connexin-26/30 testing and genetic counseling. Participants completed questionnaires containing 10 genetics knowledge items at baseline and following pre-test genetic counseling. The effects of genetic counseling, prior beliefs about etiology, and participant’s preferred language on genetics knowledge scores were assessed (n = 244). Pre-test genetic counseling (p = .0007), language (p < .0001), prior beliefs (p < .0001), and the interaction between counseling and beliefs (p = .035) were predictors of genetics knowledge. American Sign Language (ASL)-users and participants with “non-genetic/unknown” prior beliefs had lower knowledge scores than English-users and participants with “genetic” prior beliefs, respectively. Genetics knowledge improved after genetic counseling regardless of participants’ language; knowledge change was greater for the “non-genetic/unknown” beliefs group than the “genetic” beliefs group. ASL-users’ lower knowledge scores are consistent with evidence that ethnic and cultural minority groups have less genetics knowledge, perhaps from exposure and access disparities. Culturally and linguistically appropriate pre-test genetic counseling significantly improved deaf individuals’ genetics knowledge. Assessing deaf individuals’ prior beliefs is important for enhancing genetics knowledge.

Effect of Genetic Counseling and Testing for BRCA1 and BRCA2 Mutations in African American Women: A Randomized Trial

Background: Limited empirical data are available on the effects of genetic counseling and testing among African American women. Objective: To evaluate the effects of genetic counseling and testing in African American women based on different levels of exposure: (a) women who were randomized to culturally tailored (CTGC) and standard genetic counseling (SGC) to women who declined randomization (non-randomized group), (b) participants and non-participants in genetic counseling, and (c) BRCA1 and BRCA2 (BRCA1/2) test result acceptors and decliners. Design: Randomized trial of genetic counseling conducted from February 2003 to November 2006. Measures: We evaluated changes in perceived risk of developing breast cancer and cancer worry. Results: Women randomized to CTGC and SGC did not differ in terms of changes in risk perception and cancer worry compared to decliners. However, counseling participants had a significantly greater likelihood of reporting reductions in perceived risk compared to non-participants (p = 0.03). Test result acceptors also had a significantly greater likelihood of reporting decreases in cancer worry (p = 0.03). However, having a cancer history (p = 0.03) and a BRCA1/2 prior probability (p = 0.04) were associated with increases in cancer worry. Conclusions: Although CTGC did not lead to significant improvements in perceived risk or psychological functioning, African American women may benefit from genetic counseling and testing. Continued efforts should be made to increase access to genetic counseling and testing among African American women at increased risk for hereditary disease. But, follow-up support may be needed for women who have a personal history of cancer and those with a greater prior probability of having a BRCA1/2 mutation.

A Systematic Review of the Impact of Genetic Counseling on Risk Perception Accuracy

This review presents an overview of the impact of genetic counseling on risk perception accuracy in papers published between January 2000 and February 2007. The results suggest that genetic counseling may have a positive impact on risk perception accuracy, though some studies observed no impact at all, or only for low-risk participants. Several implications for future research can be deduced. First, future researchers should link risk perception changes to objective risk estimates, define risk perception accuracy as the correct counseled risk estimate, and report both the proportion of individuals who correctly estimate their risk and the average overestimation of the risk. Second, as the descriptions of the counseling sessions were generally poor, future research should include more detailed description of these sessions and link their content to risk perception outcomes to allow interpretation of the results. Finally, the effect of genetic counseling should be examined for a wider variety of hereditary conditions. Genetic counselors should provide the necessary context in which counselees can understand risk information, use both verbal and numerical risk estimates to communicate personal risk information, and use visual aids when communicating numerical risk information.

Genetic counseling for BRCA1 and BRCA2 mutations in African American women.

Abstract Abstract #1099 Background: Efforts are now focused on increasing access to genetic counseling and testing for BRCA1 and BRCA2 (BRCA1/2) mutations to address cancer disparities in African American women; however, limited empirical data are available on the effects of these services. Therefore, we evaluated the effects of genetic counseling among African American women at increased risk for hereditary disease.&amp;#x2028; Materials and Methods: This study was conducted between February 2003 and November 2006. Participants were African American women (n=139) at increased risk for having a BRCA1 or BRCA2 (BRCA1/2) mutation. The effects of genetic counseling, including culturally tailored (CTGC) versus standard (SGC) counseling, on changes in risk perception and psychological functioning were evaluated.&amp;#x2028; Results: Women who participated in genetic counseling had a significantly greater likelihood of reporting reductions in perceived risk compared to non-participants (P=0.03). Women who received BRCA1/2 results also had a significantly greater likelihood of reporting decreases in cancer worry (P=0.03). Similar effects were found among women who had a high prior probability of having a BRCA1/2 mutation (P=0.03) and those affected with cancer (P=0.04). There were no differences in CTGC and SGC in study outcomes.&amp;#x2028; Discussion: African American women may experience some benefit from receiving BRCA1/2 test results. Participation in counseling and receiving test results may be especially beneficial to African American women who have high prior probability of having a BRCA1/2 mutation and those affected with cancer. Continued efforts should be made to increase access to genetic counseling and testing among African American women at increased risk for hereditary disease. Citation Information: Cancer Res 2009;69(2 Suppl):Abstract nr 1099.

Research and Practice Opportunities at the Intersection of Health Education, Health Behavior, and Genomics

Researchers and practitioners in health behavior and health education (HBHE) can play a pivotal leadership role in the integration of genomic advances to improve the public's health. The purpose of this article is to outline research and practice opportunities at the intersection of genomics and HBHE. We begin this article by briefly summarizing the existing evidence in the literature pertaining to the public's use of genetic services, the effectiveness of genetic counseling, and the impact of genetic testing. Following this, we outline and expand on several areas that we believe are ripe for further exploration, understanding, and public health application:(a) public understanding of genetic information, (b) interventions for health behavior change, and (c) public health assurance and advocacy. This analysis has identified the need to consider potential application efforts in genomics and HBHE from an ecological perspective, with an emphasis on multiple levels of intervention and analysis.

Patients' perception of breast cancer risk: effects of genetic counseling

Patients' perception of breast cancer risk: effects of genetic counseling

The role of genetic counseling on decisions of pregnant women aged 35 years or over regarding amniocentesis in Turkey

Abstract We investigated the effects of genetic counseling given before amniocentesis that is given based on maternal serum screening (using the cut-off value of 1/250) and genetic sonogram results (± abnormal ultrasound marker) on pregnant women who are 35 years and older age. Their attitudes towards amniocentesis after genetic counseling were evaluated. Among 340 women, 223 (65.6%) were in the high-risk group and 117 (34.4%) were in the low-risk group according to non-invasive test results. After counseling, 216 pregnant women (167 cases have high-risk, 49 cases who had low-risk) decided to have amniocentesis while 124 women (56 with high-risk and 68 with low-risk) declined it. Fourteen abnormal karyotypes were detected. All pregnant women who had fetuses with chromosomal aberrations were in high-risk group. Our study shows that screening by non-invasive prenatal diagnostic tool has an effect on families’ choice of amniocentesis. The use of these test results during counseling decreased the number of amniocentesis in a ratio of 36.5%.

Premarital genetic investigations: effect of genetic counselling

Over a period of 2 years, 86 couples (172 cases) were referred to the genetics clinic of the National Research Centre for premarital genetic counselling. About 73.25% had a family history of different genetic disorders. Consanguinity was found in 86.04%. Genetic investigations revealed chromosomal abnormalities in 26 cases (15.11%); 23 cases (13.37%) had other abnormal results. After genetic counselling, postconceptional follow-up was carried out for 30 couples; 10 of them required amniocentesis that showed abnormal fetuses in 2 mothers. Other couples had normal offspring. We conclude that premarital genetic counselling is of great use in the detection of genetic disorders and is an essential step in changing attitudes towards premarital testing and reducing consanguineous marriage.

Attitude towards prophylactic surgery and effects of genetic counselling in families with BRCA mutations. Austrian Hereditary Breast and Ovarian Cancer Group.

The intent of this study was to evaluate the effect that an awareness of being a BRCA1 or BRCA2 mutation carrier has on the attitude towards prophylactic surgery and on developing depression symptoms. Thirty-five families were selected on the basis of previously detected BRCA1 or 2 mutations and 90 family members were given the appropriate questionnaires. Prophylactic mastectomy (PM) was considered by 21% of the Austrian mutation carriers (29% affected and 8% non-affected carriers). The majority of affected and non-affected carriers expected PM to impair the quality of their life. Fifty per cent would undergo prophylactic oophorectomy (53% affected and 46% non-affected carriers). The self-rating depression scale indicated that following mutation result disclosure the depression scores of carriers decreased (40 baseline vs 38 after result disclosure, P = 0.3), whereas, for non-carriers, scores increased (36 baseline vs 40 after result disclosure, P = 0.05). We conclude that information about carrier status is not associated with increased depression symptoms in mutation carriers. In non-carriers, depression scores increased slightly, probably reflecting survivor guilt. The option of having PM was associated with a negative impact on the quality of life and was declined by the majority of Austrian mutation carriers. © 2000 Cancer Research Campaign

The Effect of Genetic Counseling on Knowledge and Perceptions Regarding Risks for Breast Cancer

In 1994, a clinic for cancer risk counseling was opened at Hadassah University Hospital in Jerusalem. Most of the counselees have been women who had breast cancer and/or a relative with breast cancer. In order to evaluate the effect of this counseling on women's knowledge and perceptions regarding the risks for breast cancer, a questionnaire was given before and after the counseling session to 60 healthy women who came to the clinic because they have relatives with breast cancer. According to the genetic counselors' estimations, most of these women had a significantly increased risk (compared to the general population) of developing cancer. Before counseling, the women overestimated the population risk for breast cancer, the contribution of heredity to morbidity of cancer, and their own risks to get cancer. After counseling session, they gave reduced estimates, closer to the "real" ones. The subjective perceptions regarding these risks were reduced after counseling, except for the perceptions regarding their relativerisks which have not changed after the counseling. About 90% of the women who came to the clinic wanted to be tested for genetic predisposition to cancer. For most of these women, the expectations that the test can rule out a genetic predisposition to cancer became more realistic after the counseling. The option to first test an affected relative was offered to all families, and a test was actually conducted in 75% of the families.

Genetic education and counseling

This special issue of Patient Education and Counseling on genetic education and counseling provides an overview of studies and findings in this field. It features a mixture of papers dealing with five different topics related to several psychosocial aspects of genetic education and counseling. Attention is paid to new issues in counseling for hereditary cancer and Huntington Disease. Articles are presented on information recall of counseled individuals, the use and impact of genetic services on counselees (acceptance of testing; knowledge of inherited cancer susceptibility; risks of genetically testing children). Also topics are addressed with respect to the counselor (neutral attitude; understandable language; information recall; satisfaction with the services provided by the genetic counselor). Furthermore, recommendations are discussed for screening practices for women with a family history of breast cancer, and in addition, the effectiveness of genetic counseling is addressed. In conclusion several suggestions for future research are given.

A follow-up study of genetic counseling in Down syndrome.

To ascertain the effects of genetic counseling on the education of counselees, a questionnaire study on the acceptance of genetic knowledge was carried out among 126 parents of children with Down syndrome. Those parents from the "Down Syndrome Association" had best scores for knowledge, followed by those who had received counseling according to a designed format (programmed counseling) in this Hospital. Parental perceptions of the information needed in genetic counseling were also studied and it was found that most parents thought that the topics of education and medical care were more important than genetic information. Realization of such difference in primary concern between counselors and counselees may improve the effectiveness of genetic counseling.

Providers' gender and moral reasoning: a proposed agenda for research on providers and patients.

Women constitute 35% of providers in genetics, at the doctoral level. A survey of 682 geneticists in 19 nations showed that gender was the single most important determinant of ethical decision making. Women were less directive and more observant of patient autonomy than men. The future influx of women into medicine calls for research on provider gender and decisions. Research is also needed on women's and men's perceptions of abortion for genetic reasons, on extended families' views, on agreement between partners and on overall effectiveness of genetic counseling, including communication, elements of provider satisfaction, interpretation of risk and uncertainty after counseling.

Effects of genetic counseling on Duchenne muscular dystrophy families in Brazil.

We report the preliminary results of a follow-up study of 574 females at-risk for Duchenne dystrophy, recontacted 3 to 13 yr after genetic counseling (GC). Among them, 290 are younger than 18 yr or still unmarried. The effectiveness of GC (reproductive performance) in the remaining group is analyzed in terms of procreation, rate of sterilization, and mean number of children. The observed data suggest that females at-risk involved in GC had about 169 children less than their normal, nonaffected brothers. In terms of prevention this would correspond roughly to 42 Duchenne affected boys and 42 carrier girls.

Effect of genetic counselling on the prevalence of Huntington's chorea

Effect of genetic counselling on the prevalence of Huntington's chorea

Effect of genetic counselling on the prevalence of Huntington's chorea.

The relative fertility of sons and daughters of patients with Huntington's chorea was found to be a little under 0.5 if they had been told of their risk of transmitting the disease before they had started their families. The effect was much the same in those who had attended the genetic clinic at The Hospital for Sick Children on a single occasion and those who had been told of their risk directly, or indirectly through the patient's spouse or family doctor, by the neurologist who was looking after their affected parent at the National Hospital for Nervous Diseases. If all offspring of patients were informed of their risk the effect on the prevalence of the disorder would be substantial, especially if the mutation rate is low and the reproductive fitness of patients in the past has been close to 1.0. Men and women at risk of developing the disease should not be seen on just one occasion, however: they need continued support by being seen regularly at a special neurological genetic clinic.

Effect of genetic counselling on the prevalence of huntington's chorea

The relative fertility of sons and daughters of patients with Huntington's chorea was found to be a little under 0.5 if they had been told of their risk of transmitting the disease before they had started their families. The effect was much the same in those who had attended the genetic clinic at The Hospital for Sick Children on a single occasion and those who had been told of their risk directly, or indirectly through the patient's spouse or family doctor, by the neurologist who was looking after their affected parent at the National Hospital for Nervous Diseases. If all offspring of patients were informed of their risk the effect on the prevalence of the disorder would be substantial, especially if the mutation rate is low and the reproductive fitness of patients in the past has been close to 1.0. Men and women at risk of developing the disease should not be seen on just one occasion, however: they need continued support by being seen regularly at a special neurological genetic clinic.