Search

This document was retired by the American College of Medical Genetics and Genomics (ACMG) Board of Directors as of May 20, 2019 with the following addendum., (Copyright © 2021. Published by Elsevier Inc.)

Purpose: The aim of this study was to survey American College of Medical Genetics and Genomics members about secondary findings from clinical genome-scale sequencing., Methods: A Web-based survey was mailed to 1,687 members of the American College of Medical Genetics and Genomics. Exploratory factor analysis identified underlying factors assessed by survey items. Linear regression assessed associations between factor scores and respondent characteristics., Results: The response rate was 29%. Four factors explained 51% of the survey variance: best practices, patient preferences, guidance, and informed consent. Most agreed with "best practice" items describing seeking and reporting of secondary findings as consistent with medical standards, having sufficient evidence, and, for adults, the benefits generally outweighing potential harms. There was lack of agreement regarding benefits versus harms for children and impact on health-care resources. The majority agreed that patient preferences should be considered, including ability to opt out, and that informed consent was feasible and critical. Characteristics significantly associated with factor scores included country of residence, sequencing experience, and years in practice., Conclusion: The American College of Medical Genetics and Genomics should update a list of genes to be assessed when clinical genome-scale sequencing is performed. Informed consent is necessary, and reporting of secondary findings should be optional. Research on implementation of secondary findings reporting is needed.

The outcomes of a meeting that focused on the role of the residual dried blood spots from newborn screening for uses in the improvement of newborn screening are reported. Discussions of policy development, such as this one, begin by identifying the problem to be solved; in this case, it is achieving common ground to develop consistent policies for the use of residual dried blood spots, such that their benefits to the public's health and the health of children are amplified, and harms are minimized. Similarly, the issue must be considered contextually. The example of newborn screening for phenylketonuria was used to highlight the issues in the context of the condition with the longest history in newborn screening. Principles and recommendations for the use of the residual dried blood spot were developed.

Purpose: Clinical geneticists with a Doctor of Medicine degree face challenges to meet the growing population demand for genetic services. This study was designed to assist the profession with workforce planning by identifying clinically relevant subgroups of geneticists and describing their professional characteristics and clinical practices. Geneticists' patient care productivity is compared across subgroups and other medical specialists., Methods: Part of a comprehensive national study of genetic services and the health workforce, this study uses data from a 2003 survey of geneticists certified by the American Board of Medical Genetics. This study includes 610 clinical geneticists who spend at least 5% of their time in direct patient-care services. An iterative approach was used to identify five subgroups based on the types of new patients seen. We conducted a descriptive analysis of subgroups by demographic, training, professional, and practice characteristics., Results: The subgroups include general (36%), pediatric (28%), reproductive (15%), metabolic (14%), and adult (7%) geneticists. Clinically relevant variations across subgroups were noted in training, professional, and practice parameters. Subgroups vary across patient care hours (median, 15-33 hours/week) and total weekly work hours (52-60 hours). New patient visits (mean, 222-900/year) are higher than follow-up patient visits (mean, 155-405) for all subgroups except metabolic geneticists., Conclusion: Although many geneticists practice as generalist geneticists, this study provides an evidence base for distinguishing clinically relevant subgroups of geneticists. Geneticists provide similar numbers of new patient visits and far fewer follow-up visits than other medical specialists. These findings are relevant to geneticist workforce planning.

To date, research examining adherence to genetic counseling principles has focused on specific counseling activities such as the giving or withholding of information and responding to client requests for advice. We audiotaped 43 prenatal genetic counseling sessions and used data-driven, qualitative, sociolinguistic methodologies to investigate how language choices facilitate or hinder the counseling process. Transcripts of each session were prepared for sociolinguistic analysis of the emergent discourse that included studying conversational style, speaker-listener symmetry, directness, and other interactional patterns. Analysis of our data demonstrates that: 1) indirect speech, marked by the use of hints, hedges, and other politeness strategies, facilitates rapport and mitigates the tension between a client-centered relationship and a counselor-driven agenda; 2) direct speech, or speaking literally, is an effective strategy for providing information and education; and 3) confusion exists between the use of indirect speech and the intent to provide nondirective counseling, especially when facilitating client decision-making. Indirect responses to client questions, such as those that include the phrases "some people" or "most people," helped to maintain counselor neutrality; however, this well-intended indirectness, used to preserve client autonomy, may have obstructed direct explorations of client needs. We argue that the genetic counseling process requires increased flexibility in the use of direct and indirect speech and provide new insights into how "talk" affects the work of genetic counselors.

The use of anonymized stored tissue is a routine practice in genetic research. Investigators who utilize stored samples are neither required nor able to obtain informed consent before each use. Many genetic studies, however, are conducted on specific ethnic populations (e.g., Ashkenazi Jews). The results in these cases, although individually anonymous, are not anonymous with respect to the ethnicity of the participants. This lack of group anonymity has led to concern about the possibility of stigmatization and discrimination based on the results of the genetic research. In the present study we surveyed Jewish individuals about their attitudes regarding the practice of using stored DNA samples for genetic research. Specifically, we were interested in whether attitudes about informed consent and willingness to participate in genetics research using stored DNA would depend on the circumstances in which the material was collected (i.e., clinical setting vs. research setting) and the characteristics of the disease or trait under investigation. Overall, most respondents reported that written informed consent should be required and that they would be willing to provide such consent. Participants were most willing to provide consent, however, when the sample had been collected in a research rather than clinical setting. Further, participants were more likely to endorse the need for obtaining consent when the sample was collected in a clinical setting. Finally, participants were significantly less willing to participate in research that examined stereotypical or potentially stigmatizing traits as opposed to research that examined medical or mental illnesses., (Copyright 2001 Wiley-Liss, Inc.)

Purpose: To determine the genetics education needs and priorities of dietitians, occupational therapists, physical therapists, psychologists, speech-language-hearing specialists, and social workers., Methods: A random sample mail survey of 3,600 members of 6 national health professional organizations was undertaken in 1998 and resulted in 1,958 responses., Results: A majority worked with clients with genetic conditions, most were providing genetic services to some clients, few had high confidence in providing genetic services, most had little or no education in genetics, and two-thirds wanted continuing education., Conclusion: The study shows a critical need for genetics education of allied and counseling health professionals.

Background: Little is known about the perception of bilateral prophylactic mastectomy (BPM), and whether perceptions are influenced by a family history of breast cancer. It is also unclear what factors may play a role in selecting BPM for follow-up care., Methods: Samples of predominantly Caucasian, well-educated women with (n = 129) and without (n = 104) family histories of breast cancer were provided a vignette of a woman at increased risk. They selected one of two follow-up options: (1) clinical breast examination, breast self exam, and annual mammography or (2) BPM., Results: The samples did not differ on the decision to select BPM (29.5% vs 22.1%). The family history sample reported worry about breast cancer as a problem (34.4%) more often than women with no history (15.7%). Multivariate analysis found worry and estimated 10-year risk of the woman in the vignette as significant predictors of selecting BPM., Conclusions: Approximately 25% of our sample selected BPM as the preferred option. The majority supported the need to discuss BPM among women at increased risk. Finally, both factors associated with the selection of BPM (worry, risk assessment) are potentially amenable to psychosocial or educational approaches. There is a clear need for assessment of worry and risk perception prior to surgical decision making., (Copyright 1999 American Health Foundation and Academic Press.)

Objectives: We conducted a randomized trial to investigate racial differences in response to two alternate pretest education strategies for BRCA1 genetic testing: a standard education model and an education plus counseling (E + C) model., Materials and Methods: Two hundred twenty-eight Caucasian women and 70 African American women with a family history of breast or ovarian cancer were contacted for a baseline telephone interview to assess sociodemographic characteristics, number of relatives affected with cancer, and race before pretest education. Outcome variables included changes from baseline to 1-month follow-up in cancer-related distress and genetic testing intentions, as well as provision of a blood sample after the education session., Results: African American women were found to differ significantly from Caucasian women in the effects of the interventions on testing intentions and provision of a blood sample. Specifically, in African American women, E + C led to greater increases than education only in intentions to be tested and provision of a blood sample. These effects were independent of socioeconomic status and referral mechanisms. In Caucasian women, there were no differential effects of the interventions on these outcomes. Reductions in cancer-specific distress were evidenced in all study groups. However, this decrease, although not significantly different, was smallest among African American women who received E + C., Conclusions: In low- to moderate-risk African American women, pretest education and counseling may motivate BRCA1 testing. Further research is needed to explore the mechanisms of impact of the alternate pretest education strategies and to increase the cultural sensitivity of education and counseling protocols.

The identification of BRCA1 and BRCA2, two breast-ovarian cancer susceptibility genes, has brought many ethical and social issues to the forefront. This paper presents the results of a survey assessing the attitudes of 238 unaffected first-degree relatives of women with breast or ovarian cancer regarding the ethical issues of autonomy and confidentiality as they relate to BRCA1/2 testing. Baseline knowledge about BRCA1/2 and ethnic and psychosocial characteristics of our study population were examined to determine their association with women's attitudes. The majority of women (86-87%) felt that health care providers should not disclose the results of genetic tests for breast-ovarian cancer susceptibility to insurance companies or employers without written consent; however, only 56-57% felt that written consent should be required for a spouse or immediate family to receive this information. Ninety-eight percent of the women surveyed agreed that genetic testing for breast-ovarian cancer risk should be voluntary. Likewise, most women (95%) agreed that a person should be able to have genetic testing against a doctor's recommendation and 88% of the women surveyed agreed that parents should be able to consent to genetic susceptibility testing on behalf of their minor children. African American women were less concerned than Caucasian women about the protection of confidentiality in families, they were more likely to agree that an individual should still have access to testing when their physicians recommended against it, and they were more supportive of parents' rights to consent to genetic predisposition testing on behalf of their minor children. Women with coping styles characterized by higher optimism were more likely to favor access to genetic testing when a physician recommended against it, and to support parents' rights to consent to testing of their minor children. Therefore, the setting and manner in which genetic counseling and testing are delivered must be appropriately tailored to reflect these attitudinal differences and preferences.

Background: In response to the isolation of the BRCA1 gene, a breast-ovarian cancer-susceptibility gene, biotechnology companies are already marketing genetic tests to health care providers and to the public. Initial studies indicate interest in BRCA1 testing in the general public and in populations at high risk. However, the optimal strategies for educating and counseling individuals have yet to be determined., Purpose: Our goal was to evaluate the impact of alternate strategies for pretest education and counseling on decision-making regarding BRCA1 testing among women at low to moderate risk who have a family history of breast and/or ovarian cancer., Methods: A randomized trial design was used to evaluate the effects of education only (educational approach) and education plus counseling (counseling approach), as compared with a waiting-list (control) condition (n = 400 for all groups combined). The educational approach reviewed information about personal risk factors, inheritance of cancer susceptibility, the benefits, limitations, and risks of BRCA1 testing, and cancer screening and prevention options. The counseling approach included this information, as well as a personalized discussion of experiences with cancer in the family and the potential psychological and social impact of testing. Data on knowledge of inherited cancer and BRCA1 test characteristics, perceived risk, perceived benefits, limitations and risks of BRCA1 testing, and testing intentions were collected by use of structured telephone interviews at baseline and at 1-month follow-up. Provision of a blood sample for future testing served as a proxy measure of intention to be tested (in the education and counseling arms of the study). The effects of intervention group on study outcomes were evaluated by use of hierarchical linear regression modeling and logistic regression modeling (for the blood sample outcome). All P values are for two-sided tests., Results: The educational and counseling approaches both led to significant increases in knowledge, relative to the control condition (P < .001 for both). The counseling approach, but not the educational approach, was superior to the control condition in producing significant increases in perceived limitations and risks of BRCA1 testing (P < .01) and decreases in perceived benefits (P < .05). However, neither approach produced changes in intentions to have BRCA1 testing. Prior to and following both education only and education plus counseling, approximately one half of the participants stated that they intended to be tested; after the session, 52% provided a blood sample., Conclusions: Standard educational approaches may be equally effective as expanded counseling approaches in enhancing knowledge. Since knowledge is a key aspect of medical decision-making, standard education may be adequate in situations where genetic testing must be streamlined. On the other hand, it has been argued that optimal decision-making requires not only knowledge, but also a reasoned evaluation of the positive and negative consequences of alternate decisions. Although the counseling approach is more likely to achieve this goal, it may not diminish interest in testing, even among women at low to moderate risk. Future research should focus on the merits of these alternate approaches for subgroups of individuals with different backgrounds who are being counseled in the variety of settings where BRCA1 testing is likely to be offered.

Background: DNA probes specific for whole chromosomes or portions of chromosomes can provide important information to aid the clinician in managing pregnancy and the geneticist in relaying accurate recurrence risk information to the patient., Case: In this case, sonography was ordered because of a low fundal height in a 29-year-old primigravida at 35 weeks' gestational age; it revealed major fetal anomalies. A small supernumerary marker was seen in some cultured amniocytes. Metaphase spreads were analyzed by means of fluorescence in situ hybridization using a centromere probe specific for chromosome 22 and a whole chromosome probe for the 11 chromosome. In situ hybridization showed that the marker chromosome was a derivative of chromosome 22 with 11q material attached near the centromere. The fetal karyotype was 47,XY,+der(22) t(11;22)(q23.3;q11.2)mat. The mother was later found to be a balanced translocation carrier., Conclusion: It was possible to offer rapid prenatal diagnosis for this family using interphase analysis with the 22 centromere probe. The patient had chorionic villus sampling, and DNA probes were used to analyze cells directly from the biopsy. The signal representing the supernumerary marker was not observed. Karyotype analysis later showed that the fetus was normal but a translocation carrier. This report illustrates that rapid in situ hybridization can provide important information in known cases of translocation carriers.

Two male half siblings developed rapid progression of neurologic symptoms at 11/2 and 21/2 years of age. Neither boy had a metabolic acidosis. Characteristic features of subacute necrotizing encephalomyelopathy, the neuropathologic basis of Leigh's syndrome, were demonstrated at autopsy. X-linkage of the disorder was considered because the boys had different fathers. An X-linked form of Leigh's syndrome was supported by a review of the literature, which showed an unexplained male/female ratio in Leigh's syndrome of 1.83/1, and a significant excess of male-male siblings. An X-linked form of Leigh's syndrome would explain the excess of males, and may account for some of the clinical and biochemical heterogeneity.