Cystic Fibrosis Prenatal Screening in Genetic Counseling Practice: Recommendations of the National Society of Genetic Counselors

For over a decade, prenatal screening for cystic fibrosis (CF) has been considered a model for the integration of genetic testing into routine medical practice. Data from pilot studies and public policy discourse have led to recommendations by some professional organizations that CF screening should be offered or made available to pregnant women and their partners, and to couples planning a pregnancy. It is crucial that genetic counselors gain thorough understanding of the complexities of CF and the implications of positive test results, so that they may serve as a reliable, educated referral base and resource for health care providers and their patients. While not all pregnant women will be referred for genetic counseling prior to CF carrier testing, genetic counselors often will be asked to counsel clients after they have a positive test result, or who are found to be at increased risk. Genetic counselors can play an important role in providing accurate and current information as well as support for patients informed decisions. These recommendations were created by a multicenter working group of genetic counselors with expertise in CF and are based on personal clinical experience, review of pertinent English language medical articles, and reports of expert committees. The recommendations should not be construed as dictating an exclusive course of management, nor does the use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care providers professional judgment based on the clinical circumstances of a particular client.     

Adjunct Prenatal Testing: Patient Decisions Regarding Ethnic Carrier Screening and Fluorescence In Situ Hybridization

Little has been reported regarding how women make decisions about genetic carrier screening for Ashkenazi Jewish genetic disease and cystic fibrosis (CF), and for fluorescent in situ hybridization (FISH) during pregnancy. Thirty-seven women who underwent genetic counseling and prenatal diagnosis were interviewed about their prenatal decision making. Respondents were largely Caucasian (95%), and undergoing prenatal diagnosis because of maternal age (78%). Sixty-three percent of those who reported having genetic carrier screening correctly defined it; 83% felt positively about it. Primary reasons reported for electing screening were: to get information, to be prepared, perception of risk, wanting peace of mind and percieved inability to care for an affected child. Women who declined screening felt they had very little or no risk, and some were deterred by cost. Ninety-five percent of respondents elected to have FISH; most were motivated by its speed in providing information and peace of mind or by timing of when the procedure was performed. Those who declined FISH reported being less concerned about having an affected child, receiving bad news, or waiting 2 weeks for results and slightly less affected by their feelings toward medical testing or physician's suggestion. These findings suggest decision-making factors differ between those electing and declining adjunct prenatal testing and increased knowledge about these factors may impact the way in which these services are offered by health care professionals. Prospective research with a larger population will be useful in further delineating the factors that influence prenatal decisions about adjunct testing measures.     

The Amish: Perceptions of genetic disorders and services

Previous studies of the closed Amish population have proven to be valuable in the field of genetics, however they have not explored the Amish parents' opinions and attitudes concerning genetic conditions and services. This exploration is necessary in order to provide culturally sensitive health care to a population at an increased risk for certain genetic conditions. The purpose of the present study was to examine the Amish population's general knowledge of genetic disorders, services, and the terminology used in describing inherited conditions, as well as their attitudes toward medical care and ethical and reproductive issues. Information was obtained from 17 Amish families, 12 who had an incidence of a genetic condition and five who had one or more children with other special health care needs, during personal interviews conducted in their homes in Lancaster, Pennsylvania. Results of the interviews showed that the birth of an affected child did not deter subsequent reproduction, that the majority of the parents were never offered genetic counseling or prenatal testing, and that the parents are interested in understanding the cause of their children's problems and recurrence risks.     

Psychology and Medical Rehabilitation: Moving Toward a Consumer-Driven Health Care System

Changes in health care will provide both opportunities and threats for rehabilitation psychologists. We must demonstrate the relevance of our clinical services to important outcomes or risk being excluded as treatment providers. With shifts to nonhospital settings, we can provide increasing clinical and administrative leadership. However, we must redefine models of treatment to include home care and telepsychology, practice guidelines and critical paths, involvement of paraprofessionals, case management, injury prevention, and health promotion. We should be involved when datasets are established to define disability-related health policies and reimbursement and be proactive in Medicare, Medicaid, and managed care reform to develop treatment packages to decrease long-term handicap. Collaboration with consumers is critical. We must frame research questions to address current policy issues. Our skills can help improve the effectiveness of human behavior, whether it be patients with illness, consumers with disability, health care providers, health systems managers, or legislators.     

Measurement of Health Care Attitudes In Cystic Fibrosis Patients and Their Parents

Previous research indicates that attitudes about information acquisition, and attitudes about behavioral involvement, moderate important health behaviors. These attitudes may play an important role in the management of cystic fibrosis (CF) because of the crucial role that patient knowledge and self-involvement play in maintaining adequate functioning. However, due to the young age of CF onset, and the necessary involvement of parents in CF patients' care, two preliminary questions require attention. First, can health care attitudes be measured reliably in young samples? Second, are parents' attitudes related to their children's attitudes? In this study we examined the measurement of health care attitudes in CF patients and their parents by administering the Health Opinion Survey. Results indicated that health care attitudes could be measured reliably in parents and teens, but that for younger patients (ages 8 to 12 years), reliability was reduced. Results also indicated that parents' attitudes and patients' attitudes were largely unrelated, suggesting that patients do not automatically adopt the health care attitudes of their parents. By implication, educational interventions targeted at parents may have limited effectiveness for their children.     

Attitudes to Genetic Testing for Deafness: The Importance of Informed Choice

With recent progress in the identification of genes for deafness, it is highly likely that genetic testing, including pre-natal testing, for deafness will become more widely available. In a context where there are concerns about pre-natal testing, and where many in the Deaf community contest the understanding of deafness as a disability, it is important to examine the attitudes of Deaf/deaf people toward genetic testing. This qualitative study employed in-depth interviews to investigate the views about genetic testing for deafness of 19 participants, who were identified as functionally deaf or hearing impaired, or as belonging to the Deaf community. The key findings are that participants were generally supportive of genetic testing for deafness but only when full information about all relevant aspects of deafness is given to prospective users of genetics services. Participants emphasized informed choice, stating that information about medical and technological options for deaf people should be provided, together with information about communication, education, and the experience of being deaf. Although there was less support for pre-natal diagnosis and termination of pregnancy for deafness, most participants nonetheless felt that individual choice was important and that pre-natal diagnosis should be made available to those who wanted to use it.     

Educational Needs of Primary Care Physicians Regarding Direct-to-Consumer Genetic Testing

To assess the educational needs of North Carolina primary care physicians (PCPs) about direct-to-consumer (DTC) genetic testing, surveys were mailed to 2,402 family and internal medicine providers in North Carolina. Out of 382 respondents, 323 (85%) felt unprepared to answer patient questions and 282 (74%) reported wanting to learn about DTC genetic testing. A total of 148 (39%) were aware of DTC genetic testing. Among these, 63 (43%) thought DTC genetic testing was clinically useful. PCPs who felt either unprepared to answer patient questions (OR = 0.354, p = 0.01) or that DTC genetic testing was clinically useful (OR = 5.783, p = 0.00) were more likely to want to learn about DTC genetic testing. PCPs are interested in learning about DTC genetic testing, but are mostly unaware of DTC testing and feel unprepared to help patients with DTC testing results. Familiar and trusted channels that provide the information and tools PCPs need to help answer patient’s questions and manage their care should be used when creating educational programs.     

Spiritual Beliefs and Barriers Among Managed Care Practitioners

Purpose: Ninety percent of American adults believe in God and 82% pray weekly. A majority wants their physicians to address spirituality during their health care visit. However, clinicians incorporate spiritual discussion in less than 20% of visits. Our objectives were to measure clinician beliefs and identify perceived barriers to integrating spirituality into patient care in a statewide, primary care, managed care group. Methods: Practitioners completed a 30-item survey including demographics and religious involvement (DUREL), spirituality in patient care (SPC), and barriers (BAR). We analyzed data using frequencies, means, standard deviations, and ANOVA. Findings: Clinicians had a range of religious denominations (67% Christian, 14% Jewish, 11% Muslim, Hindu or Buddhist, 8% agnostic), were 57% female and 24% had training in spirituality. Sixty-six percent reported experiencing the divine. Ninety-five percent felt that a patients spiritual outlook was important to handling health difficulties and 68% percent agreed that addressing spirituality was part of the physicians role. Ninety-five percent of our managed care group noted 8lack of time as an important barrier, lack of training was indicated by 69%, and 21% cited fear of response from administration. Conclusions: Managed care practitioners in a time constrained setting were spiritual themselves and believed this to be important to patients. Respondents indicated barriers of time and training to implementing these beliefs. Comparing responses from our group to those in other published surveys on clinician spirituality, we find similar concerns. Clinician education may overcome these barriers and improve ability to more fully meet their patients expressed needs regarding spirituality and beliefs.*This material has previously been presented as an abstract at the Culture and End of Life Conference, Association of Medical Colleges Spirituality, Kansas City, MO, September 12–14, 2002.Project supported by the Foundation for Spirituality in Medicine, Baltimore, MD     

Parkinson’s Disease: Patients’ Knowledge,Attitudes, and Interest in Genetic Counseling

The objective of this study was to assess the genetics knowledge of patients with Parkinson’s disease (PD), and to explore their attitudes on genetic testing and interest in genetic counseling. We surveyed 158 patients from the University of Maryland Parkinson’s Disease and Movement Disorders Center. Patients averaged a score of 63% on general genetics knowledge and 73% on PD genetics knowledge. Participants had an overall positive attitude toward genetic testing: 80% believed that the use of genetic tests among people should be promoted, and 83% would undertake genetic test for PD if it was available. Patients reported a high interest to discuss the benefits, risks, and impacts of genetic testing for PD (mean sum score?=?26, range?=?9–35), and 43% patients expressed interest in meeting with a genetic counselor. Multivariate regression analysis showed that patients who had more positive attitudes toward genetic testing for PD were more interested in meeting with a genetic counselor (β?=?0.6, p?<?0.001). This study is the first to demonstrate an interest in genetic counseling among patients with PD. Our findings demonstrate a new niche for genetic counselors to support patients in clarifying gaps or misconceptions in knowledge about PD genetics as well as the possible risks, benefits, and limitations of genetic testing.     

Knowledge and Attitudes Towards Genetic Testing: A Two Year Follow-Up Study in Patients with Asthma,Diabetes Mellitus and Cardiovascular Disease

Adequate knowledge and personal attitudes towards DNA-testing are major determinants of optimal utilization of genetic testing. This study aims to (1) assess the genetic knowledge and attitude towards genetic testing of patients with asthma, diabetes mellitus type II and cardiovascular diseases, (2) determine whether their knowledge or attitude changed since 2002, and (3) investigate the predictive role of knowledge on attitude. Data were collected within the Panel of Patients with Chronic Diseases in 2002 and 2004, resulting in 398 data-pairs. Results show that factual knowledge mainly relates to associations between genes and diseases, less is known on associations between genes, chromosomes, cells and body. The perceived knowledge on DNA-testing has not increased since 2002. The attitude towards genetic testing also appeared to be rather consistent. Less perceived medical genetic knowledge and more perceived social genetic knowledge were found predictive for a more reserved attitude towards genetic testing. In conclusion, advanced developments in the field of genetics are not accompanied by increased knowledge of patients with common multi-factorial diseases. The finding that more perceived social genetic knowledge results in more reluctance can be considered an indicator for the necessity of social debates on genetic testing.     

Adolescent Health Care Training in Predoctoral Psychology Internship Programs: A Model of Interdisciplinary Training Needs in Health Care

This needs assessment of predoctoral psychology programs in a large southeastern state reveals that although many programs include adolescent health issues and often involve the psychiatry discipline in their curricula, many trainees do not have exposure to medicine, nutrition, or nursing disciplines. Opportunities for greater interdisciplinary adolescent health care training exist in psychology training programs in this southeastern state. Integrating such training into psychology programs may enhance psychology's ability to function as a vital component of adolescent health care teams within academic medical centers across the country.     

Health Care,Capabilities, and AI Assistive Technologies

Scenarios involving the introduction of artificially intelligent (AI) assistive technologies in health care practices raise several ethical issues. In this paper, I discuss four objections to introducing AI assistive technologies in health care practices as replacements of human care. I analyse them as demands for felt care, good care, private care, and real care. I argue that although these objections cannot stand as good reasons for a general and a priori rejection of AI assistive technologies as such or as replacements of human care, they demand us to clarify what is at stake, to develop more comprehensive criteria for good care, and to rethink existing practices of care. In response to these challenges, I propose a (modified) capabilities approach to care and emphasize the inherent social dimension of care. I also discuss the demand for real care by introducing the ‘Care Experience Machine’ thought experiment. I conclude that if we set the standards of care too high when evaluating the introduction of AI assistive technologies in health care, we have to reject many of our existing, low-tech health care practices.     

Continuation of Pregnancy Following the Diagnosis of a Fetal Sex Chromosome Abnormality: A Study of Parents' Counseling Needs and Experiences

Parents who decide to continue a pregnancy diagnosed with a sex chromosome abnormality (SCA) experience a variety of emotions as they deal with complex medical and genetic information. To better understand these individuals' psychosocial, educational, and support needs, 26 parents who received prenatal diagnosis of an SCA after 1989 and who had decided to continue their pregnancy were interviewed by telephone. Twenty (77%) reported they initially had a poor understanding of the predicted syndrome. All parents later met with a genetics professional. Twenty-two (92%) parents considered sterility and underdevelopment of secondary sexual characteristics to be the most negative aspects of SCAs. Contact with other parents of children with SCAs and with support organizations were generally viewed as helpful experiences. Insight gained from this study should be useful for genetic counselors and other health care providers involved with patients who have received abnormal prenatal diagnosis results.     

Issues in Pastoral Care and Counseling for the Fourth Quarter of Life

Issues and risks for pastoral care and counseling from the perspective of old age (here, ages 75 to 100) include identification of old age as a problem and its association with death in a death-denying culture. Two elements are fundamental: existential experiential deficits between the old and their younger caregivers (e.g., age cohort experiences, health status, gender, culture, privilege, etc.); and boundary issues that push the old, and pastoral care, to the edge of experience, where choices must be made between creativity and negativity (e.g., moving to dependent living, disability, etc.). Loss of doing (versus being) as a viable option is a major edge experience. The resulting sense of emptiness carries with it the potential for a sacramental awareness in which absence of doing becomes an outward and visible sign of an inward and spiritual grace.     

Attitudes Towards Prenatal Genetic Counseling,Prenatal Genetic Testing,and Termination of Pregnancy among Southeast and East Asian Women in the United States

Recognizing the heterogeneity of the Asian population with regards to acculturation, education, health awareness, and cultural values is vital for tailoring culturally sensitive and appropriate care. Prior studies show that cultural values influence perceptions of genetics within Asian populations. The reputation of the family unit factors into decisions such as pregnancy termination and disclosure of family medical history, and the nondirective model of American genetic counseling may conflict with the historical Asian model of paternalistic health care. Previous studies also provide conflicting evidence regarding correlations between education, acculturation, age, and awareness and perceptions of genetic testing. The aims of this study were to describe attitudes towards prenatal genetics among Southeast and East Asian women living in the United States for varying amounts of time and to explore sociocultural factors influencing those attitudes. Twenty-three Asian women who were members of Asian cultural organizations in the United States were interviewed via telephone about their attitudes towards prenatal genetic counseling, prenatal genetic testing, and termination of pregnancy. Responses were transcribed and coded for common themes using a thematic analysis approach. Four major themes emerged. In general, participants: (1) had diverse expectations for genetic counselors; (2) tended to weigh risks and benefits with regards to genetic testing decisions; (3) had mixed views on termination for lethal and non-lethal genetic conditions; and (4) identified cultural factors which influenced testing and termination such as lack of available resources, societal shame and stigma, and family pressure. These findings may allow prenatal genetic counselors to gain a richer, more nuanced understanding of their Asian patients and to offer culturally tailored prenatal genetic counseling.     

Attitudes Toward Genetic Testing for Celiac Disease

HLA molecular typing for celiac disease (CD) is a genetic test with a high negative predictive value. The aim of this study is to explore knowledge of and attitudes towards genetic testing (GT). A 25-item questionnaire was developed by a multidisciplinary team and distributed to members of CD support groups across the United States. Respondents (n?=?1835) were mainly female (88 %), married (76 %), and college-educated (55 %), with a median age range of 31–50 years. Those who were married (82 vs 75 %, p?=?0.002), had children (82 vs 74 %, p?<?0.001), and had pursued education beyond high school (81 vs 68 %, p?=?0.004) were more likely to be aware of the availability of GT. On multivariable analysis, adjusting for age, sex, education, marital status, region of residence, and having children, college-education (OR 2.05, 95 % CI: 1.33–3.16) and having children (OR 1.56, 95 % CI: 1.15–2.11) remained significant predictors of GT awareness. A majority of patients with a personal or family history of CD planned GT for their children, and the most common concerns regarding GT were cost and impact on health care and/or insurance. In conclusion, awareness of GT is high among CD support group members. Efforts should be made to increase knowledge of GT in those with a lower educational level, and healthcare professionals should attempt to address concerns regarding GT cost and the impact of results on health care and insurance status.     

精准医疗的理念及其技术体系

精准医疗模式本着患者的最大获益和社会医疗投入的高效配置为宗旨,结合现代流行病学和预防医学、临床诊断学和治疗学、分子医学、医学信息学技术以及卫生经济学和医学社会学,使传统的医疗模式走向整合化,为每一个人提供量体裁衣般的疾病预防、筛查、诊断、治疗和康复计划,以最小资源投入获取最大健康保障,从而提高整体人群的健康水平。     

Lay understanding of genetic disease: A British study of families attending a genetic counseling service

Although lay people know that various diseases can be inherited, the idea that unhealthy life styles are the crucial cause of ill health has been promoted by health education policy in the United Kingdom. However, a new paradigm seems to be developing. The medical profession is increasingly using genetics to explain ill health, and people are being referred to geneticists for information and counseling. Lay conceptions of genetic disease emerged during this qualitative study of the process of genetic counseling. The results reported in this paper suggest that many lay people lack knowledge of genetics and inheritance, and that there is considerable stigma attached to genetic disease. Misconceptions and fears may not always be recognized or resolved during the process of genetic counseling. The implications of such misunderstandings and beliefs are considered in this paper.     

Attitude of Medical School Students in China Towards Genetic Testing and Counseling Issues in FXS

Fragile X syndrome (FXS) is the most common form of inherited intellectual disability. However, genetic testing protocols and genetic counseling guidelines for FXS are not yet established in mainland China. In the present study, we conducted a comprehensive analysis using a self-administered questionnaire among students at the Xiangya medical school to investigate their attitude towards genetic testing and counseling issues of FXS. We have gained a general understanding of the attitudes of medical students towards these FXS issues in China. This information is of immense importance to develop appropriate genetic tests and to train counselors for FXS. As the medical school students surveyed are prospective physicians who will be a part of the Chinese health system, our survey was focused on the basic knowledge of FXS, population-based FXS screening, confidentiality and reproductive options for mutation carriers. The study demonstrated that only less than one third of the participants had heard about FXS. 94.6 % of participants were in favor of FXS screening for women in their reproductive age who had a genetic history of FXS. Furthermore, only half of the participants would inform their families about their genetic status in case of positive test results, and more than half of the participants supported natural conception and prenatal diagnosis for FXS mutation carriers. Additional findings and research implications are also discussed. This survey targeting potential doctors provides important information for the development of FXS genetic test and counselor training for the Chinese health system.     

A Qualitative Investigation of Somali Immigrant Perceptions of Disability: Implications for Genetic Counseling

This study examined the potential utility of genetic counseling services for Somali immigrants by investigating their perceptions of disability. Five Somali women participated in structured interviews that assessed their perceptions of the nature, causes, and impact of disability, and care for persons with disabilities. Using a Heideggerian Hermeneutics qualitative method of analysis, six major themes emerged: (1) disability refers to both physical and mental conditions, with mental disability generally thought of first and as more severe; (2) in Somalia, the family cares for disabled family members, treating them as if they were normal (3) there are major cultural differences between Somalia and the United States in how persons with disabilities are treated; (4) caring for a person with a disability is stressful for the family; (5) Allah determines whether or not a child will be disabled, and this cannot be predicted or altered; and (6) family is the primary life focus, and therefore, risk of disability does not affect reproductive decisions. These themes suggest that traditional genetic counseling may have limited utility for Somali immigrants. We recommend several modifications to traditional genetic counseling for Somali patients that also may be useful for populations that have similar beliefs.