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PubMed1997

Nondirectiveness in genetic counseling: an empirical study.

Nondirectiveness is considered an essential part of genetic counseling, yet there is no generally accepted definition nor data documenting its impact on counselees. This study is an empirical investigation of directiveness, using ratings from transcripts of consultations and comparing these with counselor-reported and counselee-reported directiveness. Rated directiveness was defined as advice, expressed views about or selective reinforcement of counselees' behavior, thoughts, or emotions (advice, evaluation, and reinforcement). Analysis of 131 transcripts revealed a mean of 5.8 advice statements per consultation, 5.8 evaluative statements, and 1.7 reinforcing statements. When asked to describe their counseling style, none of the 11 counselors rated it as "not at all" directive. Half the counselees who faced a decision felt steered by the counselor. Items of rated directiveness showed satisfactory interrater reliability (kappa = .63). Factor analysis revealed that they formed one factor (eigenvalue 1.72). There were no associations either between counselor-reported, counselee-reported, and rated directiveness or between these measures and counselee anxiety and concern, satisfaction with information, or the meeting of counselees' expectations. Rated directiveness was the only measure to be associated with other process measures of the consultation, being associated with longer consultations, more blocks of speech, more social and emotional issues being raised, and fewer concerns being followed up. Advice was more likely to be given to counselees of lower socioeconomic status and to counselees judged by counselors to be highly concerned. Evaluative statements were more likely to be made by counselors who had received counseling training. These results show that genetic counseling was not characterized--by counselors, counselees, or a standardized rating scale--as uniformly nondirective.

Genetic Counseling↗

PubMedDate not supplied

Combination therapy for non-Hodgkin's lymphoma: an opportunity for pharmaceutical care in a specialty practice.

OBJECTIVE: To describe the application of pharmaceutical care practices in the administration of new therapeutic radiopharmaceuticals used in the treatment of non-Hodgkin's lymphoma (NHL). PRACTICE DESCRIPTION: At the Antibody Labeling Facility at the University of Nebraska Medical Center, the nuclear pharmacist provides support in the formulation, preparation, and quality testing of radiopharmaceuticals. The nuclear pharmacist also provides direct patient care by assisting in the administration of radiopharmaceuticals, monitoring patients during their infusions, and counseling patients on radioimmunotherapy and radiation safety. PRACTICE INNOVATION: Expanding the role of the nuclear pharmacist in treating patients with NHL using radiolabeled monoclonal antibodies (MABs). INTERVENTIONS: The nuclear pharmacist provides specialized pharmaceutical care by being involved in planning patient care, administering diagnostic and therapeutic radiopharmaceuticals, performing individualized patient dose calculations, monitoring patients, and counseling patients. MAIN OUTCOME MEASURES: Number of patients treated with radiolabeled MABs. RESULTS: Since January 1996, 85 patients with NHL have been treated using 131I-tositumomab (Corixa, GlaxoSmithKline), an anti-B1 MAB, under various clinical research protocols requiring specialized pharmaceutical care. The nuclear pharmacist on the team provided direct patient care, assisting with the administration of diagnostic and therapeutic radiopharmaceuticals under a collaborative agreement with a nuclear medicine physician or a radiation oncologist. Other pharmaceutical care activities performed include calculating individual patient doses, obtaining medication histories, counseling patients on their therapy and on radiation safety after early release, and monitoring patients for adverse effects during medication infusion. Patients have responded favorably to nontraditional nuclear pharmacy activities. CONCLUSION: The nuclear pharmacist has become an important member of the health care team that provides a new and unique therapy for patients with NHL. To date, the nuclear pharmacist, in collaboration with the nuclear medicine physician or the radiation oncologist, has successfully administered the tositumomab and 131I-tositumomab combination therapy without significant incident.

Antibodies, Monoclonal↗

PubMed1999

Universal HIV screening of pregnant women in England: cost effectiveness analysis.

OBJECTIVE: To estimate the cost effectiveness of universal, voluntary HIV screening of pregnant women in England. DESIGN: Cost effectiveness analysis. Cost estimates of caring for HIV positive children were based on the stage of HIV infection and calculated using data obtained from a London hospital between 1986 and 1996. These were combined with estimates of the health benefits and costs of antenatal screening so that the cost effectiveness of universal, voluntary antenatal screening for HIV infection in England could be estimated. MAIN OUTCOME MEASURES: Lifetime, direct costs of medical care of childhood HIV infection; life years gained as a result of the screening programme; net cost per life year gained for different pretest counselling costs; and different prevalence rates of pregnant women who were unaware that they were HIV positive. RESULTS: Estimated direct lifetime medical and social care costs of childhood HIV infection were pound178 300 using a 5% discount rate for time preference (1995-6 prices). In high prevalence areas screening pregnant women for HIV is estimated to be a cost effective intervention with a net cost of less than pound4000 for each life year gained. For areas with comparatively low prevalence rates, cost effectiveness could be less than pound20 000 per life year gained, depending on the number of pregnant women who are unaware that they are infected and local screening costs. CONCLUSIONS: Our results confirm recent recommendations that universal, voluntary antenatal HIV screening should be implemented in the London area. Serious consideration of the policy should be given for other areas in England depending on local prevalence and screening costs.

AIDS Serodiagnosis↗

PubMedDate not supplied

Analytical study of pustular eruptions in neonates.

Pustular eruptions are commonly encountered in neonatal practice. Much confusion exists among clinicians because of the similarity in clinical lesions, paucity of relevant literature, and varied nomenclature used for these diseases. This often results in inappropriate diagnoses and therapies, besides subjecting the neonates to invasive and traumatic investigative procedures. We conducted a comprehensive study of pustular eruptions in 100 neonates, using the clinical examination and simple laboratory tests to arrive at a practical diagnostic and therapeutic approach to this problem. Of the 100 neonates with pustular eruptions, 36% were in the early neonatal period (first week of life). A slight male preponderance with a male:female ratio of 1:0.79 was observed. The majority of the families of these infants had poor socioeconomic status (96%) and were living in slums (71%). A study of their educational status revealed that 54% of the mothers were uneducated. Fifty-seven percent of the neonates were born at home. The clinical pattern of diseases among these neonates was that 58% of them had infections [impetigo (23%), intertrigo (14%), scabies (6%), and viral diseases (6%)]. Noninfectious diseases (42%) included miliaria pustulosa, erythema toxicum neonatorum, epidermolysis bullosa, and contact dermatitis. Simple laboratory investigations helpful in establishing the diagnosis were smears processed with Gram (24%) and Giemsa (39%) stains and wet mounts with 10% potassium hydroxide (KOH) solution (27%) for direct microscopic examination. More than half (53%) of the patients required no specific treatment except for counseling and medications to alleviate symptoms, while others with an infectious etiology responded to topical and or systemic antibiotics/antifungals. Pustular eruptions in neonates include both infectious and noninfectious diseases. Simple laboratory tests such as Gram- and Giemsa-stained smears, direct microscopy with 10% KOH wet mounts, bacterial and fungal cultures are helpful in establishing the diagnosis and occasionally skin biopsy is needed. A practical diagnostic and therapeutic approach to this problem is discussed.

Diagnosis, Differential↗

PubMed1993

LIGHT model: an effective intervention model to change high-risk AIDS behaviors among hard-to-reach urban drug users.

Two thousand thirty-three hospital emergency room (ER) patients who were current, active injecting drug users (IDUs) were voluntary participants in a pretest, posttest research project which utilized a nursing model, the Personalized Nursing LIGHT Model, as a counseling approach to decrease high-risk AIDS behaviors. The LIGHT Model works by directly improving well-being and thereby indirectly decreasing high-risk behaviors associated with AIDS. Addicts from an urban ER in each of three cities (Detroit, Michigan; Brooklyn, New York; and Baltimore, Maryland) were treated with teams consisting of nurses and indigenous outreach workers. Posttest data were gathered on 995 of the clients who received the Personalized Nursing LIGHT Model teaching and counseling intervention. In a posttest at least 3 months after the initial interview, these IDUs reported a significant increase in well-being, t(530) = -11.77; p < .001, and significant reductions in frequency of IV heroin use, z = -18.4; p < .001, IV cocaine use, z = -16.0; p < .001, and IV speedball use, z = -14.3; p < .001, as well as significant decreases in sharing of cookers (a type of drug-using equipment), z = -13.8; p < .001, and other high-risk behaviors associated with AIDS acquisition and transmission. At a second posttest, at least 6 months after the initial interview, these results were unchanged.

Acquired Immunodeficiency Syndrome↗

PubMed1992

The need for multidisciplinary training in counseling the medically ill. Report of the training committee of the Linda Pollin Foundation.

Training for medical counselors requires that medicine and psychiatry give up the position that counseling is only a negligible offshoot that almost any professional can readily do. Instead, counseling can be considered a generic concept that covers a wide variety of interventions designed to help patients cope with the complications and consequences of their chronic illness. This report outlines the principles and scope of training for consideration in the area of counseling the medically ill and reviews the current status of training programs in the fields of psychiatry, psychology, social work, and nursing. Recommendations are made for future directions, including role clarification for disciplines, building a credible research base, provision of guidelines and possible accreditation, and incorporating medical counseling into training fellowships.

Chronic Disease↗

PubMed2003

Consumer/provider communication research: directions for development.

Communication between health care providers and consumers is a critical part of effective health care delivery. Yet, the strategic use of interpersonal communication in health care delivery is most complex, multifaceted, and often problematic, necessitating careful study of the communication process in health care to increase understanding and help improve health communication practices. The National Cancer Institute (NCI) sponsored an expert symposium on consumer/provider communication research to examine progress and identify gaps in the research literature on doctor/patient communication. This paper and this special issue of Patient Education and Counseling reviews several of the key perspectives and suggestions presented at the symposium for directing future research and applications concerning consumer/provider communication.

Communication↗

PubMed1993

Attitudes towards prenatal diagnosis and selective abortion among patients with retinitis pigmentosa or choroideremia as well as among their relatives.

Genetic counselling endeavours to be nondirective. However, the availability of prenatal diagnosis may direct clients towards accepting and using these methods. It is time to investigate the attitudes of clients in order to monitor the psychological and social effects of new genetic techniques. As prenatal diagnosis was possible for choroideremia (C), but not for retinitis pigmentosa (RP) in 1988-89, we used a questionnaire to compare the attitudes of C and RP patients, their relatives and C carriers to prenatal diagnosis. The response rate was low (35%) and no significant differences between RP and C groups came to light. However, C carriers accepted prenatal diagnosis and also selective abortion more easily, but, on the other hand, they showed more uncertainty than did the other groups. This indicates that the availability of prenatal diagnosis may confuse those concerned. In general, about 60% of all the respondents had a positive attitude to the prenatal diagnosis of RP or choroideremia, though only about 30% would use if for abortion. Over 80% of all the respondents wanted to know the opinion of the genetic counsellor.

Abortion, Therapeutic↗

PubMed2004

Faculty and the observation of trainees' clinical skills: problems and opportunities.

The clinical skills of medical interviewing, physical examination, and counseling remain vital to the effective care of patients, yet research continues to document serious deficiencies in clinical skills among students and residents. The most important method of evaluation is the direct observation of trainees performing these clinical skills. Standardized patients and other simulation technologies are important and reliable tools for teaching clinical skills and evaluating competence and will be incorporated in the near future as part of the United States Medical Licensing Examination. Standardized patients and simulation, however, cannot and should not replace the direct observation by faculty of trainees' clinical skills with actual patients. Faculty are in the best position to document improvement over time and to certify trainees have attained sophisticated levels of skill in medical interviewing, physical examination, and counseling. Unfortunately, current evidence suggests significant deficiencies in faculty direct observation evaluation skills. The author outlines the nature of the problems in clinical skills and their evaluation by faculty and ends with recommendations to improve the current state of faculty skills in evaluation.

Clinical Clerkship↗

PubMed1989

The use of DNA amplification for genetic counselling related diagnosis in haemophilia B.

A single base pair variation in the coding sequence of coagulation factor IX produces a protein polymorphism detectable with monoclonal antibodies and a restriction fragment length polymorphism (RFLP). This allows carrier and prenatal diagnoses in 48% of Caucasian families segregating for haemophilia B. However, this RFLP cannot be detected by standard Southern blotting, while the antibody assay may give equivocal results in some females and can only allow prenatal diagnoses on second trimester fetal blood samples. We show that, using the polymerase chain reaction, the polymorphic DNA segment can be amplified and directly tested for the presence of the alternative sequences by a non-radioactive procedure that has the advantage of speed (1-2 days), partial automation and applicability to first trimester diagnoses. We also show that the method gives results on a single drop of dried blood.

Base Sequence↗

PubMedDate not supplied

Clinical vignette in antiretroviral therapy: jaundice.

HIV caregivers face many challenges following initiation of ART. The development of jaundice is uncommon but worrisome. In this case, two distinct and contrasting episodes of jaundice were observed. In the first instance, isolated elevation of the indirect bilirubin without elevation of the alkaline phosphatase was noted. The normal PT and serum aminotransferase levels indicate the absence of intrinsic liver dysfunction. Elevations in the indirect bilirubin may result from either impaired uptake/conjugation or excess production. The latter, usually from acquired hemolysis, may be a complication of an occult NHL. A work-up for this AIDS-related malignancy was not initiated since the caregivers recognized jaundice as a complication of IDV, which inhibits UDP-glucuronyl transferase and produces a Gilbert's-like syndrome. Physicians can expect to encounter this syndrome even more frequently with ATV. Experienced patients given RTV-boosted ATV have experienced elevations of unconjugated hyper-bilirubinemia in up to 45 percent of cases in clinical trials. However, such elevations do not reflect liver dysfunction and symptomatic jaundice requiring dosage reduction that occurred infrequently (7 to 8 percent of study patients). Counseling patients about this syndrome may promote adherence and prevent self-directed interruptions of ATV that compromise efficacy. The second case of jaundice provides a more formidable diagnostic challenge. The triad of LFT abnormalities (mild elevation of aminotransferases, normal PT, and marked cholestatic jaundice) implies an acute process that is mildly toxic to hepatocytes without affecting their synthetic function. The subacute nature of the patient's cholestatic jaundice suggests either intrahepatic infiltrative disease of the liver or extrahepatic obstruction of the biliary tree, most likely due to the patient's relatively modest level of pain and lack of fever. Despite LFT abnormalities occurring 17 months after a switch in his ART, cumulative drug-related toxicities must still be considered. Ritonavir can produce significant elevations in the AST/ALT, especially with pre-existing chronic liver disease as with hepatitis C virus coinfection. The NRTIs can produce hepatic steatosis, a result of mitochondrial toxicity and impaired fatty acid oxidation. However, jaundice and cholestasis are not typical of the latter syndrome. With a negative contrast CT that excludes parenchymal liver disease, investigation of the biliary tree to assess the presence of AIDS-related cholangitis was the next step. Performing a sphincterotomy or stent placement, and obtaining brushings or biopsy specimens to determine the extent of extrahepatic obstruction may help define a pathogen and be life-saving. The negative results of the ERCP justify the final diagnostic step, a liver biopsy to evaluate microscopic infiltrative disease that might not have been detected on contrast abdominal CT. Examples might include granulomatous disease (MAC), fungal etiologies (histoplasmosis), carcinomatosis (lymphoma, hepatoma, cholangiocarcinoma), and microvascular disease (bacillary angiomatosis). The failure to observe granulomatous inflammation in the liver does not exclude MAC infection, as MAC may involve other peri-aortic or mesenteric lymph nodes. This form of IRIS is unlikely given the abdominal CT findings, lack of systemic complaints, and extended persistence of liver aminotransferases. The nonspecific results of the liver biopsy are a common outcome in advanced AIDS patients with elevated alkaline phosphatase levels. Despite not having identified a pathogen, the biopsy establishes chronic liver disease and prompts re-evaluation and change of treatment to NFV. The subsequent normalization of the patient's aminotransferase levels suggests a prior adverse effect of LPV/r in the setting of unexplained, chronic liver disease. Most importantly, this case highlights the importance of HIV caregivers to review ART for safety when noting chronic liver dysfunction. Patients need to be counseled to minimize acetaminophen use, to consume alcohol in moderation, and to avoid behavior with risk for hepatitis C. Finally, all HIV patients should receive appropriate vaccination against hepatitis A and B if serology shows lack of protective immunity.

Acquired Immunodeficiency Syndrome↗

PubMed1995

Promoting dietary change.

The discouraging failure rate of counselling patients for dietary change suggests that traditional methods require some reconsideration. These have been frequently based on generalized assumptions regarding patients' health values, their need for knowledge, level of literacy, and ability to translate abstract concepts into daily food. Similarly, both patient and counsellor often insufficiently examine the environmental context of the dietary changes to determine whether or not they are feasible. This brief overview examines ways in which nutrition counselling can be enhanced to ensure that patients are enabled to develop a heart-healthy diet through active problem solving and directed development of self-efficacy in the skills they will need for lasting change.

Counseling↗

PubMedDate not supplied

Nurse training needs in AIDS counselling.

Twenty-one people involved in AIDS counselling or nurse education on AIDS were interviewed using a semi-structured process involving key questions. The interviews were transcribed directly onto a lap-top computer, then entered into a free-form database computer program for analysis. The findings, although non-generalisable, indicate that counselling is seen as a necessary part of the support services offered to people with HIV or AIDS, but is not necessarily a task suitable for nurses. AIDS counsellors were identified as the main source of psychosocial help for people with HIV or AIDS, whose main concerns were perceived as being fear of stigmatisation, poor health and dying. The issues of whether or not to train nurses as AIDS counsellors, and how to train them, require further study.

Acquired Immunodeficiency Syndrome↗

PubMed1971

Birth control counselling in an adolescent clinic.

The number of requests for contraceptive advice from the Teen Clinic at The Hospital for Sick Children increased in the past two years. Patients came directly or were referred by social service agencies. All were girls, nulliparous and unmarried and from 14 to 19 years old. Every patient was extensively interviewed and counselled with particular attention to sexual knowledge, emotional and social background. Individual decisions were made regarding the risk of unwanted pregnancy, the need for contraceptive advice and supply and the total health needs of the patient.

Adolescent↗

PubMed1997

HIV and the primary care physician in Japan.

Primary care physicians in Japan must provide comprehensive medical care and counseling for persons both infected with and at risk for HIV/AIDS. Despite existing activities and education programs, HIV case numbers continue to rise in Japan, and only a limited number of hospitals and physicians offer care to those with HIV/AIDS. Some doctors in Japan refuse to accept patients with HIV/AIDS because of the complex treatment often involved, prejudice regarding AIDS, and fear of transmission. Other impediments to effective treatment of HIV/AIDS in Japan include insufficient risk evaluation through outpatient services, lack of privacy, and restrictions and policies at medical facilities. If Japan's primary care physicians cannot participate in caring for those with HIV/AIDS, it will be impossible for every patient with HIV/AIDS to receive correct and adequate medical care. To enable primary care physicians to provide high-quality service and prevention counseling to those with HIV/AIDS, prejudice, fear, and logistic impediments must be eradicated. Comprehensive practice guidelines that protect patients' rights and privacy should be established immediately. The guidelines should direct primary care physicians toward a logical and proper approach to HIV/AIDS care by addressing fundamental treatment and effective prevention counseling as well as the social problems surrounding HIV/AIDS. In addition, research on the general knowledge level and prevalent attitudes among Japan's primary care physicians regarding HIV/AIDS would clarify which specific issues the guidelines should emphasize.

Ambulatory Care↗

PubMed2024

Genomics-informed neuropsychiatric care for neurodevelopmental disorders: Results from a multidisciplinary clinic.

PURPOSE: Patients with neurodevelopmental disorders (NDDs) have high rates of neuropsychiatric comorbidities. Genomic medicine may help guide care because pathogenic variants are identified in up to 50% of patients with NDDs. We evaluate the impact of a genomics-informed, multidisciplinary, neuropsychiatric specialty clinic on the diagnosis and management of patients with NDDs. METHODS: We performed a retrospective study of 316 patients from the University of California, Los Angeles Care and Research in Neurogenetics Clinic, a genomics-informed multidisciplinary clinic. RESULTS: Among the 246 patients who underwent genetic testing, 41.8% had a pathogenic or likely pathogenic variant. Patients had 62 different genetic diagnoses, with 12 diagnoses shared by 2 or more patients, whereas 50 diagnoses were found in only single patients. Genetic diagnosis resulted in direct changes to clinical management in all patients with a pathogenic or likely pathogenic variant, including cascade testing (30.6%), family counseling (22.2%), medication changes (13.9%), clinical trial referral (2.8%), medical surveillance (30.6%), and specialty referrals (69.4%). CONCLUSIONS: A genomics-informed model can provide significant clinical benefits to patients with NDDs, directly affecting management across multiple domains for most diagnosed patients. As precision treatments advance, establishing a genetic diagnosis will be critical for proper management. With the growing number of rare neurogenetic disorders, clinician training should emphasize core principles of genomic medicine over individual syndromes.

Humans↗

PubMed1997

Issues complicating the implementation of postexposure prophylaxis.

Occupational exposures to blood-borne pathogens occur regularly in diverse settings and involve multiple groups of healthcare workers. Current compliance of healthcare workers with behavioral controls is poor, and additional engineering and work-practice controls for exposure prevention are inadequate and/or underutilized. Barriers to effective postexposure management include deficient knowledge and fear and denial among healthcare workers, the diverse risks associated with different exposures, the costs and personnel necessary for providing exposure management 24 hours a day, variable levels of expertise in postexposure prophylaxis strategies, and administrative requirements for standardized policies and procedures. In the current environment, healthcare institutions are largely ill equipped to provide timely and effective postexposure prophylaxis. Widespread worker education, simplified reporting mechanisms, and availability of prompt source and worker testing along with timely, free postexposure prophylaxis is central to an institution's postexposure program. Postexposure management programs should be comprehensive and provide standardized procedures, expand workers' access to postexposure prophylaxis by establishing responsible parties in diverse areas, disseminate program information to all workers, and ensure confidentiality in the care and follow-up of exposed workers. To implement such programs, it may be necessary to merge resources and link local management of exposures with regional expertise to provide up-to-date counseling in a rapidly changing field. Careful surveillance of occupational exposures is essential to evaluate program efficacy, direct prevention efforts, and to determine necessary resources to ensure continued successful delivery of postexposure prophylaxis.

Anti-HIV Agents↗

PubMed2002

Nutritional interventions for individuals with bulimia nervosa.

Many physical and psychological effects of bulimia nervosa are caused by the patient's partial starvation and chaotic nutritional cycle. Attention should thus be initially directed to correcting nutritional deficiencies and abnormal eating patterns, and providing dietary counselling. Nevertheless, very little has been written about the nutritional management of this eating disorder. Nutritional counselling for bulimia patients is reviewed in this paper. Current knowledge about nutritional therapy and its efficacy, goals and objectives is presented, along with recommendations used in treatment programmes. Lastly, the key steps of nutritional management are summarised.

Bulimia↗