Are dropouts, dropouts?

In this study, the perceptions of unilateral terminators, "dropouts," of their visit to a community mental health center were examined. A telephone survey was conducted to assess client satisfaction, impressions of the setting and therapist, helpfulness of the visit, expectations of and reported services received, and source and degree of problem(s) solution. Forty-seven respondents participated in the survey. Seventy percent were satisfied with the service they received. Satisfaction was related to favorable perceptions of the setting, the therapist, helpfulness of the visit, and whether improvement was due to contact with the center. Almost 80% of the respondents reported their problems had improved. Expectations of services to be rendered were generally met. Meeting of expectations was related to client satisfaction and perceived helpfulness but not to problem solution. Center impact was related to client satisfaction, mode of entry, meeting of clients' expectations, and number of services received. The study suggests that unilateral client termination is not a failure of the client or the intervention system. Clients can benefit from one session, use alternative sources of assistance, or be affected by environmental changes.     

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

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

Genetic services for men: the preferences of men with a family history of prostate cancer.

PURPOSE: Men have a lower uptake of genetic services than women; however, the specific needs and preferences of men at risk of genetic conditions other than hereditary breast ovarian cancer are not known. We ascertain the information preferences of men with a family history of prostate cancer. METHODS: Unaffected men and their partners were administered a written questionnaire. RESULTS: Responses were received from 280 men (response rate: 59.2%) and 174 partners (response rate: 74%). Most men (59.6%) reported having insufficient information about their risk and wanted further information about personal risk (93.2%) and risk management (93.6%). Strikingly, 56.3% preferred to receive information related only to positive outcomes. Urologists were the preferred source of information, but there was considerable interest in a multidisciplinary service approach significantly associated with the number of affected relatives (odds ratio = 1.94, P < .002). Partners' level of concern was not associated with interest in multidisciplinary services, satisfaction with information, or support received. CONCLUSIONS: Delivering services to men at risk will require a multifaceted approach by primary care providers and specialists. Challenges include meeting men's expectations in the face of uncertain medical knowledge, engaging those at high risk in multidisciplinary services, and delivering tailored information to those at lower risk.     

AsktheGeneticistSM: five years of online experience

PurposeTo identify the genetic informational needs and assess the level of awareness about clinical genetic services among adults who use the internet.MethodsWe created an online service called AsktheGeneticist^SM (http://www.askthegen.org) to answer questions about medical genetics. Since 2003, we have received 4497 questions from every US state and 84 countries/territories. Genetic counselors draft answers to the questions submitted. The questions and answers are next reviewed by clinical geneticists, then organized by topic and uploaded to the site. A link to an online website-user satisfaction survey is e-mailed to the user with a link to their Q&A.ResultsBefore visiting AsktheGeneticist^SM, 20% (50/247) of survey respondents were unaware that genetic services existed. After visiting our website, 23.5% (58) of survey respondents sought contact with a genetics health care professional, compared with <1% of patients who self-refer to a general genetics clinic (binomial test; P < 0.0001). Website users most often sought information about a known genetic condition in their family and the risk of recurrence.ConclusionsOur data suggest that the internet can be an effective tool for increasing the awareness of genetic services and identifying genetic informational needs of online adults, as well as for connecting patients with genetic services.     

Dental visit satisfaction in a group of adults aged 50 years and over

Studies have found that utilization of dental services is generally less common than utilization of medical services, particularly by older persons. Because satisfied dental patients were found to be greater users of the service than nonsatisfied patients, it was decided to investigate the correlates of dental visit satisfaction in older subjects. Predictions that satisfaction would be positively related to regular use of dental services and negatively related to dental anxiety were confirmed. The results also suggested that older dental patients have different expectations of their dentists than younger ones.     

Motivations, satisfaction, and information of immediate breast reconstruction following mastectomy

This study evaluated patients’ motivations for, and satisfaction with, the treatment and information of immediate breast reconstruction (IBR) with a silicone prosthesis. It studied satisfaction more deeply by relating it to the quality of life, body-image and sexual functioning. Seventy-three patients who received mastectomy, followed by IBR with a subpectoral silicone prosthesis, completed a self-report questionnaire concerning their motivations for, perceived advantages of and satisfaction with IBR, the information received, quality of life, body image, and sexual functioning. Despite the fact that 50% of the reconstructions resulted in complications or complaints, 70% of the women were satisfied with the reconstruction and only 12% would never choose IBR again. Satisfaction was strongly correlated with the need for information. The higher the patient’s expectations, the higher their need for information. The most common perceived advantage of IBR was the avoidance of an external prosthesis. A majority of patients were satisfied with the breast reconstruction. However, a sizeable proportion needed more information about breast reconstruction and the use of the silicone prosthesis. To avoid too high expectations more attention should be given to possible complications and the moderate cosmetic results.     

Ethical,social, and cultural issues related to clinical genetic testing and counseling in low- and middle-income countries: a systematic review

PurposeWe performed a systematic review of the ethical, social, and cultural issues associated with delivery of genetic services in low- and middle-income countries (LMICs).MethodsWe searched 11 databases for studies addressing ethical, social, and/or cultural issues associated with clinical genetic testing and/or counselling performed in LMICs. Narrative synthesis was employed to analyze findings, and resultant themes were mapped onto the social ecological model (PROSPERO #CRD42016042894).ResultsAfter reviewing 13,308 articles, 192 met inclusion criteria. Nine themes emerged: (1) genetic counseling has a tendency of being directive, (2) genetic services have psychosocial consequences that require improved support, (3) medical genetics training is inadequate, (4) genetic services are difficult to access, (5) social determinants affect uptake and understanding of genetic services, (6) social stigma is often associated with genetic disease, (7) family values are at risk of disruption by genetic services, (8) religious principles pose barriers to acceptability and utilization of genetic services, and (9) cultural beliefs and practices influence uptake of information and understanding of genetic disease.ConclusionWe identified a number of complex and interrelated ethical, cultural, and social issues with implications implications for further development of genetic services in LMICs.     

Newborn blood spot screening and genetic services: a survey of Minnesota primary care physicians.

PURPOSE: To (1) obtain guidance on the preferred content and format of quick reference newborn blood spot screening information from the Minnesota Department of Health; (2) determine primary care physicians' perceptions of the benefits of genetic services; and (3) determine primary care physicians' satisfaction with genetic counseling services. METHODS: A written survey was mailed to family physicians and pediatricians in Minnesota (n = 300). RESULTS: Eighty physicians responded (28% response rate). Whereas 70% of respondents felt previous information received from the newborn screening program was adequate, 83% were interested in quick reference information. The majority of physicians preferred this information as a laminated sheet (63%). Physician procedure for an abnormal screen, newborn screening program protocol for an abnormal screen, and disease treatment and follow-up information were recommended for inclusion on quick reference. Over half of physicians agreed with the following benefits of genetic services: provide testing options (88%); evaluate family members (88%); reduce parental anxiety (87%); provide resources (83%); provide diagnostic information (76%); determine medical needs (67%); and determine emotional needs (51%). Ninety-nine percent of physicians were satisfied with genetic counseling services. CONCLUSIONS: Physicians indicated that reference material for primary care physicians should include a quick reference card with specific categories of information. Newborn screening programs should attempt to increase physician awareness of genetic services, including the subsequent medical and psychosocial benefits for their patients.     

Unleashing the power of human genetic variation knowledge: New Zealand stakeholder perspectives

PurposeThis study aimed to characterize the challenges in using genetic information in health care and to identify opportunities for improvement.MethodsTaking a grounded theory approach, semistructured interviews were conducted with 48 participants to collect multiple stakeholder perspectives on genetic services in New Zealand.ResultsThree themes emerged from the data: (1) four service delivery models were identified in operation, including both those expected models involving genetic counselors and variations that do not route through the formal genetic service program; (2) multiple barriers to sharing and using genetic information were perceived, including technological, organizational, institutional, legal, ethical, and social issues; and (3) impediments to wider use of genetic testing technology, including variable understanding of genetic test utilities among clinicians and the limited capacity of clinical genetic services. Targeting these problems, information technologies and knowledge management tools have the potential to support key tasks in genetic services delivery, improve knowledge processes, and enhance knowledge networks.ConclusionBecause of the effect of issues in genetic information and knowledge management, the potential of human genetic variation knowledge to enhance health care delivery has been put on a “leash.”     

Genetic counselling: the psychological impact of meeting patients'' expectations.

We know little about patients' expectations of genetic counselling, the extent to which these are met, and whether meeting expectations is associated with improved patient outcome. This study describes 131 consultations of patients referred to a regional genetics centre, and documents their expectations, the extent to which these are met, and the predictors and consequences of expectations being met. The outcomes assessed were state anxiety, concern about the problem for which the patient was referred, and satisfaction with information given. Patients came to genetic counselling expecting information (79%), explanation (63%), reassurance (50%), advice (50%), and help in making decisions (30%). The majority got what they were expecting: 74% had their expectation for information met, 56% had their expectation for explanation met, 60% had their expectation for reassurance met, 61% had their expectation for advice met, and 73% had their expectation for help with making decisions met. Patient expectations, and whether or not these were met, were not predicted by any of the patient or counsellor variables measured. When patients' expectations for reassurance and advice were met, patients were less concerned and their anxiety level was more reduced than when such expectations were not met. Meeting patients' expectations for information, explanation, or help with decision making were not associated with better outcomes. Explanations for these results and implications for the practice of genetic counselling are discussed.     

Parents’ perceptions of genetics services for congenital heart disease: the role of demographic,clinical, and psychological factors in determining service attendance

PurposeWe sought to identify the demographic, clinical, and psychological factors associated with parents’ attendance at clinical genetics services for congenital heart disease.MethodsA survey assessing access to cardiac genetics services and a range of other variables was sent to the families of 213 children diagnosed with congenital heart disease between the years 2000 and 2009 at the Sydney Children’s Hospital, Australia.ResultsOf the 114 respondents, 22% had accessed cardiac genetics services. Variables strongly associated with service attendance included presence of a syndrome associated with congenital heart disease (odds ratio = 17.93; P < 0.001) and antenatal diagnosis of congenital heart disease (odds ratio = 4.13; P = 0.02). Most participants (87%) perceived genetic factors as “quite” or “extremely important” in the development of congenital heart disease, and many (73%) believed that receiving information about congenital heart disease and genetics was “quite” or “extremely important”; however, only 36% of participants could recall receiving information of this nature. Forty-two percent of parents reported current concerns about their child’s health, and a substantial subset reported levels of depression (26%), anxiety (27%), and stress (32%) warranting clinical attention.ConclusionThere is a strong desire among parents of children with congenital heart disease for greater information about the role of genetic factors; however, most families do not access cardiac genetics services and report limited recall of information gathered from other sources.Genet Med16 6, 460–468.     

Health visitors'' awareness and perception of clinical genetic services.

A questionnaire was sent to 84 health visitors to assess their awareness and perception of genetic services and how they perceived their role in the referral of patients. The study showed that while health visitors had a reasonable knowledge of the more obvious aspects of genetic services, there were a number of areas in which they were unsure. The respondents did not identify themselves as prime initiators in the process of referring patients to a genetic service, although they appeared able to identify families on their caseloads for whom this service may be relevant. Health visitors viewed their own knowledge of genetics as poor, a factor which may account for the low referral rate initiated by this group of professionals. The respondents attached importance to genetic issues and 76 (95%) wished to be better informed about the subject. It is suggested that the inclusion of genetics as part of an in-service training programme might fulfil this need and lead to greater advocacy of genetic services among the families in their care. These findings are of interest in view of the proposals within the recent Royal College of Physicians report (Prenatal screening and genetic counselling) suggesting that community genetic services should make use of primary health care workers such as health visitors.     

Assuring clinical genetic services for newborns identified through U.S. newborn screening programs

PurposeThe study purpose was to determine whether U.S. newborn screening and/or genetics programs systematically document whether newborns and their families, identified with genetic disorders through newborn dried blood spot screening, receive clinical genetic services.MethodsNineteen state genetic plans were reviewed and a 30-question survey was administered to 53 respondents, including state newborn screening program coordinators and state genetics program coordinators in 36 states and principal investigators of 5 Health Resources and Services Administration-designated regional genetic and newborn screening collaboratives.ResultsSurvey findings indicate that none of the state newborn screening and/or state genetics programs routinely tracked patient-level data on clinical genetic services for newborns identified with all of the genetic and congenital conditions for which their programs screened. Few programs could provide information systematically on whether patients were referred for, or received, genetic counseling.ConclusionsSystematic tracking of clinical genetic services for newborns identified by newborn screening programs is desirable and manageable. Recent national guidelines recommend tracking genetic counseling in newborn screening follow-up. The communications processes that state programs currently use to obtain follow-up reports from subspecialists could be augmented with clinical genetic service questions. Programs should be encouraged and supported in the efforts to track genetic services for the benefit of newborns and their families.     

Clinical genetics issues encountered by family physicians.

PURPOSE: To describe the genetics-related clinical issues encountered by family physicians, and the medical problems they referred to genetics consultants. METHODS: Questionnaires were mailed to a nationwide, random sample of 498 practicing family physicians, asking how many times in the past year they discussed genetic information about 19 familial or genetic conditions with patients and what proportion of the families with each genetic condition were referred for genetics consultation. Factor analysis was used to group the conditions. RESULTS: The response rate was 38% (n = 190). Respondents were similar to non-respondents except that more were women. Most family physicians reported discussing the genetics of common cancers, cardiovascular disease, and Alzheimer's disease with two or more patients in the past year. Thirteen percent had referred families for genetics assessment of breast-ovarian cancer but only two made genetics referrals for cardiovascular disease or dementia. 25% to 50% of family physicians had addressed genetic issues in at least one family with hemoglobinopathy, a blood clotting disorder, hemochromatosis, mental illness, vision loss or deafness, chromosome abnormality, infertility or pregnancy loss, congenital anomalies, mental retardation, and neurofibromatosis. Most cases were not referred to geneticists. Of respondents, 23% said that genetics consultation is very difficult to obtain or unavailable and 18% listed ethical and social dilemmas related to pursuing genetic diagnosis. CONCLUSION: Nationwide, family physicians address a variety of genetics issues with patients, most frequently consulting geneticists for perinatal conditions and familial cancers. Access to genetics consultation is more difficult in rural areas. These data may be used in organizing genetics services and in planning professional education programs for primary care clinicians.     

Stroke services in general practice--are they satisfactory?

BACKGROUND: The contribution of general practice and primary care teams to stroke care has received surprisingly little attention despite research evidence on the importance of coordinated care. AIM: To determine general practitioners' (GPs') and their patients' satisfaction with hospital and community services for stroke patients in Grampian Region, Scotland. METHOD: A questionnaire survey of 138 stroke patients and their GPs was carried out six weeks after each patient was discharged home between June 1995 and January 1996. Outcomes measured were GP and patient satisfaction with services, Barthel Index, Hospital Anxiety and Depression scores, London Handicap Score, and Homsat and Hospsat scores (satisfaction with stroke services). RESULTS: Response rates of 95% (131) for GPs and 91% (125) for patients were obtained. GPs and patients were generally satisfied with services. Stroke patients were more likely to have had contact with their GP than with any other service. Adverse comments from GPs focused on problems with hospital discharge letters. At six weeks, patients received an average of 2.5 community services and 1.5 hospital services, but there was wide variation across disability groups. CONCLUSIONS: Levels of satisfaction were high, but the wide range and variation in services used by patients emphasized the complexity of the primary care of stroke patients; the need for coordination, review and effective links with hospital; and the key role of the GP.     

The Worcester development project: general practitioner satisfaction with a new community psychiatric service.

General practitioners in the Worcester development project area were interviewed about their experience of using the new community based psychiatric services. Of those who remembered the previous asylum based services most thought the new services were an improvement in many respects and were satisfied with the care provided for their patients. However, there were difficulties in obtaining emergency admissions, and criticisms of the social work service being slow to respond to requests for help. General dissatisfaction was expressed about feedback, particularly from the community psychiatric nursing service. General practitioners are expected to have a key role in the coordination of community services. However, most general practitioners interviewed had no particular interest or training in psychiatry. This, coupled with the inadequate information they received and the possibility of their workload increasing as more patients move out of hospital, raises questions about how they may be helped to fulfil this coordinating role in community psychiatric services.     

Providing services in remote and rural Australian communities

A needs analysis was conducted of people with disabilities living in remote and rural areas of New South Wales (NSW), Australia. The nature of service provision generated the widest range of comments during data collections which were conducted through consultations, interviews, and field trips. This paper integrates issues raised in the literature about the nature of work in rural and remote areas with information gathered from service providers and consumers working in country areas of NSW. Clients or consumers (people with disabilities, their families, and care-providers) reported many negative encounters with services. Many service providers said that they were working under difficult conditions and felt that they did not obtain adequate support or recognition from their organizations. Many city-based agencies had given little attention to the appropriateness of their services within remote and rural areas. Other agencies were aware of deficits but were unclear as to how to address them. The article closes with a discussion of action-oriented strategies designed to address issues associated with the nature of work in Australian rural and remote areas. © 1997 John Wiley & Sons, Inc.