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Biomedical subjects

B A Bernhardt

Publications and source records attributed to B A Bernhardt.

35 records · Page 2Linked to original sources
PubMed1992

The organization and delivery of clinical genetics services.

Advances in genetics, including mapping the human genome, improved therapy for genetic disorders, recognition of the role of genetic factors in common diseases of adulthood, and new screening tests for carrier detection and presymptomatic diagnosis create an increased demand for and awareness of clinical genetic services. These services, focusing on diagnosis, management, and genetic counseling, had been supported by a variety of state, provincial, federal, and foundation grants. As clinical genetics has evolved from a service with roots in research provided solely at academic medical centers to one widely available in the community, the services in the United States are increasingly provided on a fee-for-service basis in various settings including private hospitals, state-supported outreach clinics, and free-standing genetics centers, whereas in Canada they are generally based in university hospital settings and are covered by universal health care. Given the limited numbers of clinical geneticists and genetic counselors now practicing, much of the application in this decade of new genetic technologies and knowledge will fall upon primary care physicians.

Genetic Counseling↗
PubMed1992

The economics of clinical genetics services. IV. Financial impact of outpatient genetic services on an academic institution.

Those clinical genetic services that do not involve laboratory tests or procedures--i.e., the "cognitive" services such as diagnosis, management, and counseling--are labor-intensive, time-consuming, and not self-supporting. However, as a result of an evaluation at a genetics clinics, a patient will often receive other services at the same medical center. The full economic impact of the genetics clinic may be underappreciated. Therefore, at one medical center we examined (a) three settings that delivered genetics services and (b) two specialty clinics providing services to children with genetics conditions; and we calculated charges and payments for an unselected, consecutive group of outpatients. The results showed that cognitive genetics services accounted for a variable, but generally low, percentage of both the professional (generally physicians') and total charges accumulated by patients as a consequence of their visit to the genetics clinic. With laboratory and procedural charges included, patients seen in general genetics clinics (or their insurance plans) paid up to three times as much to the medical center and to its health professionals as to the genetics professional. These data confirm that clinical genetics services, while not generating enough income to cover their own costs, bring considerable revenue to the medical center. This fact alone should prove useful to the director of clinical genetics programs when they are negotiating finances with institutional administrators.

Fees and Charges↗
PubMed1990

A survey of state Medicaid policies for coverage of abortion and prenatal diagnostic procedures.

In the summer of 1988, we surveyed all states to evaluate access to Medicaid funding for abortion after the diagnosis of an anomalous fetus. All state Medicaid programs covered amniocentesis, and most had expanded coverage to include newer prenatal diagnostic procedures for eligible women. In 29 states, however, abortion coverage was limited to instances when continuation of abortion threatens the life of the mother. Only 13 states paid for a woman on Medicaid to obtain an abortion after diagnosis of an anomalous fetus.

Abortion, Therapeutic↗
PubMed1989

The economics of clinical genetics services. III. Cognitive genetics services are not self-supporting.

We investigated the amount of time required to provide, and the charges and reimbursement for, cognitive genetics services in four clinical settings. In a prenatal diagnostic center, a mean of 3 h/couple was required to provide counseling and follow-up services with a mean charge of $30/h and collection of $27/h. Only 49% of personnel costs were covered by income from patient charges. In a genetics clinic in a private specialty hospital, 5.5 and 2.75 h were required to provide cognitive services to each new and follow-up family, respectively. The mean charge for each new family was $25/h and for follow-up families $13/h. The amount collected was less than 25% of that charged. In a pediatric genetics clinic in a large teaching hospital, new families required a mean of 4 h and were charged $28/h; follow-up families also required a mean of 4 h, and were charged $15/h. Only 55% of the amounts charged were collected. Income from patient charges covered only 69% of personnel costs. In a genetics outreach setting, 5 and 4.5 h were required to serve new and follow-up families, respectively. Charges were $25/h and $12/h, and no monies were collected. In all clinic settings, less than one-half of the total service time was that of a physician, and more than one-half of the service time occurred before and after the clinic visit. In no clinic setting were cognitive genetics services self-supporting. Means to improve the financial base of cognitive genetics services include improving collections, increasing charges, developing fee schedules, providing services more efficiently, and seeking state, federal, and foundation support for services.

Costs and Cost Analysis↗
PubMed1988

Marfan syndrome: neuropsychological aspects.

We evaluated the neurodevelopmental status and cognitive ability of 30 school-age children with Marfan syndrome. We found average intellectual (mean full scale IQ = 109.3) and gross motor development. Fifty percent had one or more neuropsychologic deficits: learning disability (LD) (13%), attention deficit disorder with or without hyperactivity (ADD +/- H) (17%), neuromaturational immaturity (NMI) (10%), and a performance IQ score different from their verbal score by more than 20 points (30%). Patients with a large verbal-performance discrepancy, with one exception, scored lower on tests of performance, and particularly low on two subtests, object assembly and coding, compared with the rest of the patients (P less than 0.01). The factor most highly correlated with verbal-performance discrepancy was the severity of joint hypermobility (P = 0.02), which suggests that the depressed performance score was due, in part, to motor incoordination. Children with Marfan syndrome may be prone to neuropsychologic problems; the role of routine screening remains to be tested. Those with hand-wrist hypermobility seem at particular risk for difficulties with tasks that involve writing and should receive careful evaluation in the classroom. Due to the high risk of aortic dilatation in these patients, if stimulant medications are considered for treatment of ADD +/- H, the risk of adverse sympathomimetic effect should be weighed against the potential benefit.

Adolescent↗
PubMed1988

Obesity in achondroplasia.

Obesity is a significant and potentially serious health problem in achondroplasia. Body mass indices, weight-to-square of the height ratio (W/H2), and triceps skinfold measurements show that obesity is common. It begins in early childhood and is prevalent at all ages. We recommend that weight be monitored closely in all persons with achondroplasia and that dietary intervention be instituted whenever the body mass indices, W/H2, and triceps skinfold measurements exceed the 95th centile for the general population.

Achondroplasia↗
PubMed1988

Dural ectasia is a common feature of the Marfan syndrome.

Widening of the lumbosacral spinal canal was found in 63% of 57 patients with the Marfan syndrome and in none of 57 age- and sex-matched non-Marfan control patients, who underwent CT scanning for routine clinical indications. The bony abnormalities in mild cases consisted of thinning of the pedicles and taminae and erosion of the neural foraminae and were generally limited to L5 and S1. More severe changes were present in 13 patients, two of whom had associated neurologic signs, and included meningoceles or near total erosion of a pedicle. Presence and severity of vertebral abnormalities were associated with neither any other clinical feature nor overall phenotypic severity. Dural ectasia can be added to the list of pleiotropic manifestations of the Marfan syndrome.

Adult↗
PubMed1987

The economics of clinical genetics services. I. Preview.

To an ever increasing extent, a variety of economic factors are affecting the delivery of clinical genetics services. These economic factors, which we enumerate with an historical perspective, influence how genetics professionals, patients, and third-party payers relate to genetics services. From the perspectives of each of these interested parties, the deficiency of objective information about the current economic situation is striking. The recent history of charges and reimbursement for our genetics clinic illustrates both one kind of data that is readily available and how modification of administrative procedures can improve the economic balance sheet. However, several characteristics of clinical genetics limit the possibility of economic self-sufficiency.

Cost-Benefit Analysis↗
PubMed1987

The economics of clinical genetics services. II. A time analysis of a medical genetics clinic.

In a time-and-reimbursement analysis of our clinical genetics service, we documented (1) the time spent by professionals and staff in serving families before, during, and after the clinic visit; (2) the charges and reimbursement for the services provided; and (3) the relationship between income from clinical practice and the personnel costs of the clinic. We found that newly referred and returning families required 7.1 and 4.0 h, respectively. Average collections for professional services were +135 (+19/h) for new families and +49 (+12/h) for returning families. Income from clinical practice covered 37% of the clinical portion of personnel costs. These results indicate that cognitive clinical genetics services are labor intensive, yield low payments per service hour, and are not financially self-supporting. To improve the economic status of genetics clinics, administrators might consider rendering services more efficiently; increasing charges for services; billing for all services provided to all family members; billing for all genetics professionals, including counselors and social workers; and requesting payment at the time of service.

Cost-Benefit Analysis↗
PubMed1982

The influence of obstetricians on the utilization of amniocentesis.

A study of 173 Western New York State obstetricians was undertaken to study referral patterns for second-trimester amniocentesis in 1974-1978. Referral patterns were analysed in relation to obstetrician age, religion, board certification, hospital affiliation and practice location. Forty-seven per cent of the obstetricians had never referred a patient for amniocentesis. Those referring were overall younger than those not referring and were significantly more often board certified. Obstetrician religion was significantly related to referral with fewer Catholic obstetricians referring. Hospital affiliation (teaching versus non-teaching) and obstetrician practice location (urban versus rural) were not important factors after controlling for religion and board certification. Obstetrician factors account for a small but important part of the variability in referral, and other factors, such as cost and access to laboratory and obstetric care need further investigation.

Age Factors↗
PubMedDate not supplied

Issues in implementing prenatal screening for cystic fibrosis: results of a working conference.

PURPOSE: To summarize a conference convened to examine how cystic fibrosis screening might appropriately be introduced into routine prenatal practice. METHODS: Participants included experts from various relevant disciplines. Systematic reviews and data from individual trials were presented; issues were identified and discussed. RESULTS: Judged by published criteria, prenatal cystic fibrosis screening is suitable for introduction. Screening can be performed cost-effectively by identifying racial/ethnic groups at sufficient risk and then using either of two models for delivering laboratory services. Validated educational materials exist. Ethical issues are not unique. CONCLUSIONS: Once adequate facilities for patient and provider education, testing, counseling, quality control, and monitoring are in place, individual programs can begin prenatal screening for cystic fibrosis.

Clinical Trials as Topic↗
PubMedDate not supplied

Evaluation of nurses and genetic counselors as providers of education about breast cancer susceptibility testing.

PURPOSE/OBJECTIVES: To compare outcomes of pretest education about breast cancer susceptibility testing provided by nurses and genetic counselors. DESIGN: Two-group, post-test only evaluation of an educational intervention. SETTING: A tertiary care hospital. SAMPLE: 87 women who had a first-degree relative with premenopausal breast cancer; six specially-trained providers (four genetic counselors and two nurses). METHODS: Self-administered questionnaire completed immediately following education sessions. MAIN RESEARCH VARIABLES: Subjects' understanding of the limitations of testing, perceived autonomy in decision making, and satisfaction; partnership as perceived by subjects and providers. FINDINGS: After the sessions, 62% of subjects understood the limitations of testing, 98% reported a high degree of perceived autonomy in decision making, 81% were highly satisfied with the session, and 91% reported forming a partnership with their providers. Lower perceived partnership reported by genetic counselors was the only significant difference by provider type. CONCLUSIONS: With training and supervision, nurses and genetic counselors can be equally effective in providing education about genetic testing for breast cancer susceptibility in research settings. Additional research is needed to determine the outcomes of education provided in clinical settings. IMPLICATIONS FOR NURSING PRACTICE: As the demand for education about genetic testing for cancer susceptibility increases, nurses need to be educated and trained to provide this service.

Adult↗
PubMedDate not supplied

"Decoding" informed consent. Insights from women regarding breast cancer susceptibility testing.

Cancer susceptibility testing is likely to become routine in medical practice, despite many limitations and unanswered questions. These uncertainties greatly complicate the process of informed consent, creating an excellent opportunity to reconsider exactly how it should be conducted. Research with women's reactions to the availability of genetic susceptibility testing for breast cancer dramatically underscores that informed consent ought to be highly individualized, taking care to discern what patients believe about the disease and its causes and what role they want their physician to play.

Attitude to Health↗