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PubMed2007

Anticipated uptake of genetic testing for familial melanoma in an Australian sample: An exploratory study.

INTRODUCTION: The potential role of genetic testing in families with an inherited pattern of melanoma is a complex issue, and yet limited data exist on perceptions of predictive genetic testing for mutations among individuals at high risk of melanoma. METHODOLOGY: Forty semi-structured interviews were undertaken with affected and unaffected individuals at either high or average risk of developing melanoma due to family history. Interviews addressed key issues such as: the role of genetics in causal attributions for melanoma; genetic testing intentions and motivations; perceived accuracy of genetic testing in predicting melanoma onset, and the impact of varied accuracy on testing intentions; views on the testing of children; perceived benefits and limitations of testing; and information needs and communication preferences. RESULTS: In-depth thematic analysis revealed a number of important qualitative differences between groups at varying risk of melanoma, and genders. Specifically, participants with a family history of melanoma believed genetic factors play an important role in melanoma causation; conveyed strong intentions to pursue genetic testing; and viewed the benefits of genetic testing as outweighing the limitations. Females appeared to endorse the testing of children more firmly than males, and males' intentions to pursue testing appeared more contingent on penetrance than females'. Across groups, the most preferred communication option was an informational video. CONCLUSION: Those at high risk of melanoma due to family history express a strong interest in predictive genetic testing.

Adult↗

PubMed2005

Genetic testing for inherited colon cancer.

The genes associated with each of the inherited syndromes of colon cancer have now been identified, and genetic testing is available for diagnosis. These syndromes include familial adenomatous polyposis, hereditary nonpolyposis colorectal cancer, Peutz-Jeghers syndrome, juvenile polyposis syndrome, and, possibly, Cowden's syndrome. Clinical genetic testing approaches have been developed for each of these syndromes and are now a part of accepted clinical care. Disease-causing mutations can be found in the majority of families affected with one of the inherited syndromes, and, most importantly, once a mutation is found in an index case of the family, relatives can be tested for the presence or absence of that mutation with near 100% accuracy. Cancer screening and management in syndrome families is then based on the results of genetic testing. For the physician to order and properly interpret genetic tests, a basic understanding of the types of mutations that lead to inherited disease and the methods for detecting them is vital. These issues will be presented. Additional clinical issues somewhat unique to genetic testing include genetic counseling and informed consent for genetic testing, both of which will also be reviewed. Often the most difficult aspect of genetic testing is deciding which patients and families should undergo the testing. Furthermore, this issue is quite specific for each of the syndromes. Thus, following presentation of general principles of selection for genetic testing, a detailed approach for identifying persons who should undergo testing for each of the individual syndromes will be given, together with relevant descriptions of the syndromes. Finally, the ongoing work to discover new and possibly more common but less penetrant colon cancer susceptibility genes that cause common familial colon cancer will be presented.

Colonic Neoplasms↗

PubMedDate not supplied

Attitudes toward genetic testing in patients with colorectal cancer.

PURPOSE: The purpose of this study was to examine risk perceptions and interest in genetic testing among African American and White patients with colorectal cancer. DESCRIPTION OF STUDY: In this cross-sectional study, 98 patients with colorectal cancer participated in a brief structured telephone interview. Information was collected on knowledge and risk perceptions regarding colorectal cancer genetics, health behaviors, knowledge about the availability of genetic testing, and interest in genetic testing for colorectal cancer susceptibility. RESULTS: Sixty-one percent of the participants were worried about their relatives' risk of colorectal cancer, and 64% were concerned about being a colorectal cancer susceptibility gene carrier. Although 81% of the participants reported that they had never heard about a genetic test for colorectal cancer susceptibility, 72% stated that they would want to take the test if it were available. Predictors of intention to have a genetic test were younger age, less advanced stage of disease, and more frequent thoughts about colorectal cancer being hereditary. CLINICAL IMPLICATIONS: These results suggest that the demand for genetic testing may be great, despite a general lack of knowledge about colorectal cancer genetics and the potential risks and limitations of testing. Education and counseling about cancer genetics and genetic testing may clarify misconceptions about hereditary colorectal cancer and help patients with colorectal cancer and their family members make informed decisions about whether to undergo testing.

Adult↗

PubMed1998

How interested is the public in genetic testing for colon cancer susceptibility? Report of a cross-sectional population survey.

OBJECTIVE: To assess the public's interest in genetic testing for colon cancer susceptibility, to determine whether provision of information about the accuracy of the test or the population risk of inheriting the colon cancer gene influences interest, to determine the reasons for wanting to be tested and to identify the factors related to interest in testing. DESIGN: A cross-sectional random digit dialing telephone survey of 501 adults. SETTING: Ontario. MAIN OUTCOME MEASURES: Proportion of the public interested in genetic testing; reasons for interest in testing. RESULTS: Of the sample, 39.9% (95% confidence interval [CI] 35.5 to 44.3) stated that they would be very interested in taking a simple blood test if a positive result suggested they had an 80% chance of getting colon cancer sometime during their lifetime. When it was suggested that the test might be accurate only 90% of the time, 33.1% of the sample (95% CI 28.7 to 37.5) still said they would be very interested in testing. When informed that less than 1% of the population inherits the gene for colon cancer, the proportion of the sample stating they would still be very interested in genetic testing fell to 19.2% (95% CI 14.8 to 23.6). The main reasons given for wanting genetic testing were to take preventive action, for peace of mind and curiosity. For respondents who remained interested in testing after being given information about the population risk of inheriting the gene, 2 factors were identified by logistic regression analysis as being independently related to interest: worry about cancer and perceived risk of getting colon cancer. CONCLUSIONS: If the public's interest in testing for colon cancer susceptibility has any influence on its eventual request to be tested, then demand for genetic testing may be considerable once such tests become widely available and known to the public. This study reveals that the public's interest in genetic testing is substantial, although modifiable by the provision of information about the population risk of inheriting a colon cancer gene. This finding suggests that genetic researchers and others should be careful to provide the population risk of inheriting cancer genes when discussing the discovery of these genes with the media. Furthermore, public health educators will need to ensure that information aids include material on familial risk criteria, genetic counselling and genetic testing, as well as on the implications of genetic testing, the general population risk of developing colon cancer and the general population risk of carrying the colon cancer gene. This information should also be provided to those who seek assessment, to health care professionals and to the public.

Adolescent↗

PubMed1998

Attitudes of deaf adults toward genetic testing for hereditary deafness.

Recent advances within molecular genetics to identify the genes for deafness mean that it is now possible for genetic-counseling services to offer genetic testing for deafness to certain families. The purpose of this study is to document the attitudes of deaf adults toward genetic testing for deafness. A structured, self-completion questionnaire was given to delegates at an international conference on the "Deaf Nation," held at the University of Central Lancashire in 1997. The conference was aimed at well-educated people, with an emphasis on Deaf culture issues. Eighty-seven deaf delegates from the United Kingdom returned completed questionnaires. The questionnaire had been designed to quantitatively assess attitudes toward genetics, interest in prenatal diagnosis (PND) for deafness, and preference for having deaf or hearing children. The results from this study provide evidence of a predominantly negative attitude toward genetics and its impact on deaf people, in a population for whom genetic-counseling services are relevant. Fifty-five percent of the sample thought that genetic testing would do more harm than good, 46% thought that its potential use devalued deaf people, and 49% were concerned about new discoveries in genetics. When asked about testing in pregnancy, 16% of participants said that they would consider having PND, and, of these, 29% said that they would prefer to have deaf children. Geneticists need to appreciate that some deaf persons may prefer to have deaf children and may consider the use of genetic technology to achieve this. Any genetic-counseling service set up for families with deafness can only be effective and appropriate if clinicians and counselors take into consideration the beliefs and values of the deaf community at large.

Congresses as Topic↗

PubMed2001

Categorizing genetic tests to identify their ethical, legal, and social implications.

Practice standards in medical genetics provide an implicit guide to the ethical, legal, and social implications (ELSI) of genetic tests. The common use of nondirective counseling reflects the principle that many testing decisions should be determined by personal values. Yet geneticists make test recommendations in some circumstances, e.g., RET mutation testing for MEN2 and newborn screening for phenylketonuria (PKU). Conversely, many geneticists recommend against testing for Apolipoprotein E (ApoE) alleles to predict Alzheimer disease (AD) risk. Taken together, these examples suggest that genetic tests can be categorized by a joint consideration of clinical validity and availability of effective treatment for persons who test positive. For genetic tests with high clinical validity/no treatment (e.g., presymptomatic testing for Huntington disease), the predominant concern is adequate nondirective counseling to ensure an informed, autonomous decision. By contrast, the predominant concern for tests with high clinical validity/effective treatment (e.g., PKU) is assuring access to care for eligible persons. For tests with limited clinical validity/no treatment (e.g., ApoE), recommending against test use can be justified on the principle of avoiding harm. For a fourth category, tests with limited clinical validity/effective treatment (e.g., HFE mutation testing for hereditary hemochromatosis), net benefit is the issue: the balance between potential benefits of treatment and potential harms of genetic labeling must be weighed. Where uncertainty exists concerning both clinical validity and effectiveness of treatment, as in the case of BRCA 1/2 mutation testing, the value of testing may vary according to different testing contexts. This approach to test categorization allows a rapid determination of the predominant ELSI concerns for different kinds of genetic tests and identifies the data most urgently needed for test evaluation.

Bioethics↗

PubMed1999

Genetic testing and Alzheimer disease: recommendations of the Stanford Program in Genomics, Ethics, and Society.

Several genes associated with Alzheimer disease (AD) have been localized and cloned; two genetic tests are already commercially available, and new tests are being developed. Genetic testing for AD--either for disease prediction or for diagnosis--raises critical ethical concerns. The multidisciplinary Alzheimer Disease Working Group of the Stanford Program in Genomics, Ethics, and Society (PGES) presents comprehensive recommendations on genetic testing for AD. The Group concludes that under current conditions, genetic testing for AD prediction or diagnosis is only rarely appropriate. Criteria for judging the readiness of a test for introduction into routine clinical practice typically rely heavily on evaluation of technical efficacy. PGES recommends a broader and more comprehensive approach, considering: 1) the unique social and historical meanings of AD; 2) the availability of procedures to promote good surrogate decision making for incompetent patients and to safeguard confidentiality; 3) access to sophisticated genetic counselors able to communicate complex risk information and effectively convey the social costs and psychological burdens of testing, such as unintentional disclosure of predictive genetic information to family members; 4) protection from inappropriate advertising and marketing of genetic tests; and 5) recognition of the need for public education about the meaning and usefulness of predictive and diagnostic tests for AD. In this special issue of Genetic Testing, the PGES recommendations are published along with comprehensive background papers authored by Working Group members.

Alzheimer Disease↗

PubMed2002

GeneTests-GeneClinics: genetic testing information for a growing audience.

The development and usage of two companion NIH-funded genetic testing information databases, GeneTests (www.genetests.org) and GeneClinics (www.geneclinics.org), now merged into one web site, reflect the steadily increasing use of genetic testing and the expanding audience for genetic testing information. Established in 1993 as Helix, a genetics laboratory directory of approximately 110 listings, GeneTests has grown into a database of over 900 tests for inherited diseases, a directory of over 500 international laboratories, a directory of over 1,000 U.S. and international genetics clinics, and a resource for educational/teaching materials and reports of summary genetic test data. GeneClinics, founded in 1997 as an expert-authored, peer-reviewed, disease-specific knowledge base relating genetic testing to patient care, has grown steadily, now containing over 130 expert-authored, peer-reviewed full-text entries relating genetic testing information to diagnosis, management, and genetic counseling of specific inherited diseases. In spring 2001 the two databases were merged and in October 2001 the two web sites were merged for the purpose of seamless navigation into the GeneTests-GeneClinics site (www.genetests.org or www.geneclinics.org); the GeneClinics knowledge base was renamed "GeneReviews" to avoid confusion with the U.S. and international clinic directories. As genetic testing has moved steadily out of research venues and into routine medical practice, the user audience for these databases has become international and expansive and includes healthcare providers, patients, educators, policy makers, and the media. The use of these combined resources has grown to approximately 3,200 visits/day.

Databases, Genetic↗

PubMed2003

Economic considerations for health insurance coverage of emerging genetic tests.

Public and private health insurance plans face the question of whether to cover emerging genetic tests for cancer and other diseases. This paper outlines issues in the economic evaluation of new genetic tests, illustrating key methodological issues and policy implications with findings from a comprehensive and systematic review of the 14 full economic evaluations published over the past 5 years that have addressed both the costs and consequences of molecular genetic tests. Key questions for framing an evaluation include: whose viewpoint matters, which costs and consequences are relevant, and to which clinical alternatives should new genetic tests be compared? While economic evaluation research can inform coverage decisions about genetic tests, the coverage decision-making process must also inform economic researchers about the aims, context, and value systems within which genetic tests will be covered and practised.

Genetic Testing↗

PubMed2003

Consumer knowledge and opinions of genetic testing for breast cancer risk.

Although clinical evidence shows the value of genetic testing for breast cancer risk, consumer opinion about the test-and its outcomes-may differ. We conducted focus groups with white and black women to assess consumer opinions about genetic testing for breast cancer risk. We conducted 5 focus groups with women between the ages of 30 and 79. Participants were not selected for personal or family history of breast cancer. The findings of these focus groups suggest that consumers' understandings of risk, genetics, and genetic testing can differ considerably from clinical definitions and interpretations. Clinical information appeared to be interpreted by participants based on personal experience and beliefs about genetics and disease causation. Our findings also suggest that many consumers have incomplete or erroneous knowledge about genetic testing (eg, whether the test should be repeated annually). Participants gave greater attention to the emotional and social consequences of positive test results than to their physical outcomes, suggesting that emotional and social issues may be more salient in decision making about whether to be tested. Sensitivity to the possibility that consumers may use nonclinical criteria to assess the value of genetic testing can help clinicians counsel women about testing and what actions to take after testing.

Adult↗

PubMed1996

Genetic testing for colon cancer susceptibility: Anticipated reactions of patients and challenges to providers.

The commercial availability of genetic tests for colon cancer susceptibility is creating new opportunities and challenges for both patients and providers. To provide information useful in the education and counseling of individuals considering genetic testing, we conducted structured interviews with 45 male and female first-degree relatives of colorectal cancer patients. Fifty-one percent of respondents indicated that they definitely would want to obtain a genetic test for colon cancer susceptibility when it is available and 31% said that they probably would want to be tested. Interest in genetic testing was significantly higher among persons with less formal education and those with a Catholic religious preference. Motivations for genetic testing included the following: to know if more screening tests are needed, to learn if one's children are at risk and to be reassured. Barriers to testing included concerns about insurance, test accuracy and how one's family would react emotionally. Most participants anticipated that they would become depressed and anxious if they tested positive for a mutation, while many would feel guilty and still worry if they tested negative. Of note, about one-half of respondents expected that they would decrease their use of screening tests and make fewer attempts to reduce dietary fat if they tested negative. These preliminary results underscore the importance of educating patients about the potential risks, benefits and limitations of genetic testing, with particular emphasis on the possibility of adverse psychological effects and implications for health insurance. The potential for false reassurance following a negative test result should be addressed by emphasizing the residual risks of cancer among non-carriers of predisposing mutations.

Adolescent↗

PubMed2000

Genetic testing: a physician's perspective.

Progress in DNA diagnostics has been extremely rapid. We sought to determine attitudes, awareness, and knowledge of genetic testing by physicians affiliated with the Mount Sinai Medical Center. We surveyed 363 physicians within whose fields genetic testing for various diseases and disorders exist. Physicians' awareness of and opinions regarding testing, attitudes toward counseling, knowledge of the field, and interest in further education were assessed. Three hundred forty-one (341) physicians were determined to be eligible for the study and, of these, 89 (26%) returned completed surveys. Of the respondents, 71% rated their knowledge of genetics and genetic testing as "fair" to "poor"; only 37% read articles concerning genetic testing on a regular basis. Physician awareness of currently available testing produced a bell-shaped distribution. Knowledge regarding Mendelian genetics yielded a bimodal distribution, and knowledge reflecting an understanding of the mechanics behind genetic testing produced a bell-like curve, skewed to the right. Those who identified themselves as practicing within an "academic" setting scored significantly higher on the Mendelian genetics and testing mechanics sections than those practicing in a "private" setting. Ninety-eight percent (98%) of the physicians said they would refer their patients to a genetic counselor. Although 91% of the respondents were aware of the existence of genetic counseling services, only 71% were aware of the services available at major New York medical centers. Of those aware of counseling services, 53% had referred a patient to them, and 83% of those who referred were "mostly" to "very" satisfied with the counseling. Ninety-five percent (95%) of the physicians believed that the doctor, among others, has the responsibility to counsel patients about genetic testing, yet only 51% felt that they had the time. No statistically significant preference was found concerning the methods for gaining further education or information about genetic testing. Further education for physicians is required in order for them to accurately convey the risks and benefits of genetic testing to their patients. Furthermore, awareness of the counseling services available within the New York area needs to be heightened in order to provide physicians and patients with the specific services they desire. The most efficient and effective methods for providing information and for heightening awareness need to be determined through additional research.

Clinical Competence↗

PubMed1997

Educational material about genetic tests: does it provide key information for patients and practitioners?

Genetic testing for common conditions will be used increasingly in primary care, but resources for patient counseling are decreasing. It is also necessary that primary care practitioners be better equipped to do basic genetic counseling. Therefore, the quality of informational materials for practitioners and patients is important. It was unknown how often key elements recommended by policy groups were actually included in such material. It was our aim to determine the content of printed informational material for practitioners and patients on genetic testing. We performed (1) a telephone survey of organizations in the United States that developed genetic tests or services and (2) a content analysis of pamphlets obtained from these organizations to determine the presence of 10 critical elements necessary to evaluate the appropriateness and performance of the tests. Almost 95% (169/178) of organizations responded to our survey; 131/169 (78%) reported using informational materials. We analyzed 115 pamphlets collected from 125/131 (95%) organizations. Elements least frequently included in the pamphlets were risks and benefits, patient rights, and intended use or purpose of the test. Most frequently included were descriptions of the conditions detected by the test, and the appropriate patients for testing. Nearly one half of the pamphlets included some statement about the accuracy of the test, but most of these did not specify whether their statements referred to sensitivity, specificity, or predictive value. Overall, pamphlets tended to contain information that would aid in determining a patient's eligibility for a genetic test, but did not contain sufficient information about the tests themselves. Our results suggest that several critical elements need to be added to enhance informed choices by patients and physicians.

Benchmarking↗

PubMed2000

Value of predictive genetic testing in management of hereditary non-polyposis colorectal cancer (HNPCC)

OBJECTIVE: To investigate the impact of predictive genetic testing on colonoscopic surveillance in an extended family with hereditary non-polyposis colorectal cancer (HNPCC). SETTING: Familial Bowel Cancer Service, The Royal Melbourne Hospital, Victoria. SUBJECTS: 96 people registered with the Service who were apparently unaffected members of an extended family that met the classic Amsterdam criteria for HNPCC and carried an MLH1 gene mutation (IVS9 + 3insT). INTERVENTION: Predictive genetic testing was offered in a cascade manner to at-risk family members; mutation-positive individuals were advised to have annual colonoscopic surveillance, while mutation-negative individuals were withdrawn from surveillance. MAIN OUTCOME MEASURES: Previous compliance with recommended colonoscopic surveillance; uptake and results of genetic testing; expected effect of genetic test results on number of colonoscopies over five years. RESULTS: 22 of the 96 family members (23%) were not complying with recommended surveillance. Of 48 individuals offered predictive genetic testing, 41 (85%) responded and 39 (81%) underwent testing. Seven of the 39 (18%) were positive for the family-specific mutation, and 32 (82%) were negative. The 39 tested individuals and 37 of their descendants who were registered with the screening program had undergone 70 colonoscopies in the five years before genetic testing. In the five years after testing, only 37 surveillance colonoscopies were planned (annual or two-yearly colonoscopies for the six mutation-positive individuals and five-yearly colonoscopies for four mutation-negative individuals with previously identified adenoma), an almost 50% reduction in colonoscopies. CONCLUSION: Predictive genetic testing in HNPCC families allows many individuals to be withdrawn from regular colonoscopic surveillance. It may therefore reduce costs, as well as have emotional benefits for many individuals.

Adult↗

PubMed2000

[Need of better knowledge of genetic tests among Norwegian physicians].

BACKGROUND: New predictive genetic tests are introduced in clinical work, and this means new tasks for the physician. MATERIAL AND METHODS: Every sixth member of the Norwegian Medical Association practising as a general practitioner, neurologist or psychiatrist (N = 732), were asked to answer a mailed, anonymous questionnaire about their attitudes to the new tasks. RESULTS: We obtained 451 (62%) answers. There were no significant differences between the various groups in the profession. So far, 54% had no patient in their practice who had taken a predictive genetic test. About two-thirds answered that the geneticist should inform about what is known about the consequences after a test result has been given. The general practitioner wants to do the follow-up. 97% of physicians think that the test result could lead to increased distress in various ways for the tested person or his/her family. Half of the physicians would advise taking a prenatal test if one of the parents had a known risk of an inherited disease and the foetus was at risk. Only 22% are in favour of abortion if the foetus has the gene in question. INTERPRETATION: The physicians (93%) do not think they have sufficient knowledge about predictive genetic tests to handle the information procedure on their own. They want courses in medical genetics, concise and relevant information from geneticists, and the possibility of consulting with specialists.

Clinical Competence↗

PubMed1999

The application of medical decision analysis to genetic testing: an introduction.

The availability of genetic tests to diagnose or predict Alzheimer disease (AD) causes a shift in the way people think about the condition and how they assess the options available to them. Decision analysis in a quantitative approach for dealing with the uncertainties inherent in many medical decisions, including decisions about genetic testing. Decision analysis does not guarantee a good outcome, but aims to yield better overall average results by providing a framework for people to evaluate their options and minimize cognitive biases. We provide an overview of the decision analysis process, including the terms and tools commonly associated with it. We also use a recent example to demonstrate one way decision analysis has been applied to genetics in the medical literature. This paper is an introduction to subsequent papers that explore the specific question of whether decision analysis is a helpful tool for understanding the uncertainty inherent in probabilistic information about genetic risk for AD.

Alzheimer Disease↗

PubMed2004

Factors influencing intention to obtain a genetic test for a hereditary disease in an affected group and in the general public.

BACKGROUND: To ensure successful implementations of genetic screening in the future, the attitudes of the public are an important factor to consider. The primary aim of this study is to investigate the intention to take a genetic test for an unidentified hereditary disease. A further objective is to assess the predictive values of attitudes, subjective norms, and perceived personal control on the intention to take a genetic test. These aims are investigated in two groups differing in their experience and knowledge of genetic testing. METHOD: A questionnaire was developed according to the Theory of Planned Behavior (TPB) and mailed to a random sample of 1000 persons from the general public and to 330 persons in FAP families. The response rate was 60% and 74%, respectively. RESULTS: The probability of taking a genetic test was high in both groups but significantly higher in the FAP group. The attitudes of the FAP group were significantly more positive when compared to the attitudes of the general public. For the persons in the FAP group, the most significant others in the decision to take a genetic test were their children, whereas spouses proved to be the most important significant others in the general public. The most important predictor of the intention to take a test in both groups was attitude, accounting for 64% of the variance. CONCLUSIONS: The study indicated that most of the individuals in the FAP group and many in the general public intended to take a genetic test. Our findings suggest that living in an affected group and having some kind of experience of a hereditary disease may lead to an even more positive attitude to genetic testing. Using the TPB, attitudes were found to be the strongest predictor of intention to take a genetic test in both groups.

Adult↗

PubMed2001

Pediatric otolaryngologists' knowledge and understanding of genetic testing for deafness.

OBJECTIVE: To assess the level of a cohort of pediatric otolaryngologists' knowledge and understanding of genetics and genetic testing for deafness and hard of hearing (D/HOH). METHODS: A questionnaire was designed to assess the level of knowledge and understanding of the genetic basis and genetic testing for deafness among a cohort of pediatric otolaryngologists. Three hundred questionnaires were made available to attendees of the 14th (1999) Annual Meeting of the American Society of Pediatric Otolaryngology, Palm Desert, Calif. A series of questions asked to gauge the respondent's level of knowledge of genetics and hearing impairment addressed estimating recurrence risks for deaf and normal-hearing parents and the likelihood of detecting a mutation in connexin 26 in specific clinical scenarios. RESULTS: A total of 28 questionnaires were completed and returned. All respondents reported that they regularly saw patients for D/HOH. Almost half commonly refer these patients for genetic testing and counseling. Seventeen (71%) of 24 otolaryngologists stated they offered genetic testing in all situations, while 6 offered counseling only at parental request or to address recurrence risk issues. One otolaryngologist offered genetic testing if there was a deaf sibling. Twelve (67%) of 18 offered pretest counseling, which was most frequently provided by a genetic counselor. Although 3 (19%) of 16 otolaryngologists provided the counseling themselves, 2 (13%) reported that they and a genetic counselor provided the counseling. While 24 (89%) of the 27 correctly stated that nonsyndromic D/HOH is usually autosomal recessive, recurrence risks were incorrectly estimated in several examples. CONCLUSIONS: While the surveyed pediatric otolaryngologists have a good knowledge of genetics and genetic testing for D/HOH, recurrence risks were often inaccurate. Since D/HOH testing is clinically available, it is imperative that physicians are educated about genetics and genetic testing and are able to communicate this to their patients and their patients' families.

Child↗