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Results for “Task Force on Genetic Testing”

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PubMed1997

Reduced Mg2+ inhibition of Ca2+ release in muscle fibers of pigs susceptible to malignant hyperthermia.

The inhibitory effect of myoplasmic Mg2+ on Ca2+ release from the sarcoplasmic reticulum (SR) was examined in mechanically skinned skeletal muscle fibers from pigs of different ryanodine-receptor (RyR) genotypes. In fibers from pigs homozygous for the normal RyR allele, the free Mg2+ concentration ([Mg2+]) had to be lowered from the normal resting level of 1 to approximately 0.1 mM to induce Ca2+ release and a force response. Fibers from pigs heterozygous or homozygous for the RyR allele associated with malignant hyperthermia (MH) needed only a smaller reduction in free [Mg2+] to induce Ca2+ release (reduction to 0.1-0.2 and > or = 0.2 mM, respectively). Dantrolene (20 microM) counteracted the effect of this reduced Mg2+ inhibition in MH muscle. The response of muscle fiber bundles to the caffeine-halothane contracture test in the three genotypes correlated well with the responsiveness of single fibers to reduced [Mg2+]. Thus the abnormal responsiveness of MH muscle to various stimuli may largely result from the reduced ability of myoplasmic Mg2+ to inhibit Ca2+ release from the SR.

Animals↗

PubMed1998

Genetic effects on task performance, but not on age polyethism, in a swarm-founding eusocial wasp

Division of labour among workers in insect societies often includes two major components: age-related changes in behaviour (age polyethism) and specialization in task performance. The aim of this study was to test whether similarity in inside-nest task performance and in rate of age polyethism correspond to genetic similarity among nestmates in the polygynous eusocial wasp Polybia aequatorialis.Behavioural data were collected on marked, known-age workers from three source colonies introduced into two observation colonies in the field. Genetic similarity among workers was assessed by quantifying sharing of random amplified polymorphic DNA (RAPD) marker alleles. Workers were categorized by whether they engaged in nest cleaning as an indicator of individual differences in inside-nest task performance. Within source colonies, workers that performed nest-cleaning tasks were more genetically similar to each other than they were to workers not performing these tasks. Workers also differed in their rates of passage through the age-related task sequence, but no association was found between sharing of RAPD marker alleles and rate of age polyethism. These results accord with earlier studies demonstrating flexibility in age polyethism in swarm-founding wasps, and with findings that worker genotypic variability corresponds to specialization in task performance in P. aequatorialis. Polybia spp. workers rarely switch among tasks, even in response to changes in colony conditions, and workers' genotypes may constrain flexibility in task performance at the individual level. Conversely, colonies may accrue benefits from having genotypically diverse worker forces, which could favour the maintenance of polygyny in swarm-founding wasps.Copyright 1998 The Association for the Study of Animal Behaviour.

Journal Article↗

PubMedDate not supplied

Reproductive health and blurred professional boundaries.

We recognize that many of the issues raised are not simple. Our proposal calls for the same thoughtful deliberation applied in other settings to be brought to bear on reproductive health care. Some have already tried alternative approaches. In Albuquerque, New Mexico, a university hospital neonatologist and the district attorney have collaborated to create an alternative to sentencing program for women who are arrested for drug-related crimes and found to be both pregnant and drug addicted. Rather than proceed with criminal sanctions, these women are offered entry into a drug treatment program that is geared to families with young children and run by the pediatrics department. Here, the physician and the district attorney collaboratively responded in ways congruent with the professional integrity of each. In another example in Portland, Oregon, physicians, drug treatment providers, and child protective social service representatives cooperatively defeated a legislative proposal to mandatorily test and report pregnant women for illicit drug use and, instead, formed a task force to jointly develop state policy regarding the issue. Drug use, HIV infection, child abuse, and poverty are all cause for alarm. Yet it is critical that our frustration about these difficult problems not be translated into blaming individuals for "deviance," or into short-term inadequate responses. In developing policy we should consider the impact on the legal and ethical rights and obligations of both patient and physician. For every course, we should evaluate both immediate and long-term efficacy, the consequences for the doctor-patient relationship, and the consequences for medical integrity. In the midst of the present regulatory and fiscal turmoil affecting health care, we urge physicians to be careful and deliberate in the policies they embrace and the actions they take.

Confidentiality↗

PubMed1994

Periodic health examination, 1994 update: 3. Primary and secondary prevention of neural tube defects. Canadian Task Force on the Periodic Health Examination.

OBJECTIVE: To make recommendations on nutritional interventions and screening manoeuvres to prevent the birth of infants with neural tube defects (NTDs). OPTIONS: Folic acid consumption through diet or supplementation in women at low risk and at high risk of having a fetus with an NTD, and maternal serum alpha-fetoprotein (MSAFP) screening in low-risk pregnancies. OUTCOMES: A reduction in the incidence rate of NTDs and potentially harmful effects of false-positive results of screening tests (i.e., abortion of a normal fetus). EVIDENCE: A MEDLINE search with the use of medical subject headings "neural tube defects," "prenatal diagnosis" and "prevention and control" identified 103 original articles published between January 1979 and March 1993. Two reviewers extracted the data by applying the rules of evidence developed by the Canadian Task Force on the Periodic Health Examination. VALUES: The task force's evidence-based methods and values were used; high value was placed on prevention of NTDs and on limitation of the harmful effects of a pregnancy involving a fetus with an NTD. BENEFITS, HARMS AND COSTS: Evidence suggests that folic acid supplementation can decrease the incidence rate of NTDs in low-risk pregnancies by 40% to 60% with no adverse effects. MSAFP screening between the 16th and 18th weeks of gestation can reach a sensitivity of 83% and a specificity of 98% when it is used as part of an organized program. The effect of screening on the incidence rate of NTDs depends on whether affected fetuses are aborted. RECOMMENDATIONS: All women of childbearing age should be advised to increase their consumption of folic acid through diet or supplementation to 0.4 mg/d beginning 1 month before pregnancy and ending at the start of the second trimester. MSAFP screening is recommended in low-risk pregnancies only when it is part of a screening program that includes access to all necessary diagnostic services. High-risk women should be referred to genetic counselling before they plan a pregnancy. VALIDATION: These recommendations are comparable to the current recommendations of the US Centers for Disease Control and Prevention, the Society of Obstetricians and Gynaecologists of Canada, the Canadian Laboratory Centre for Disease Control and the Canadian College of Medical Geneticists, and they were validated through external review. SPONSOR: These guidelines were developed and endorsed by the Canadian task force, which funded by Health Canada.

Canada↗

PubMed1998

[Possibilities and risks of genetic diagnosis].

In the recent past, cytogenetic and molecular genetic methods led to an enormous increase in knowledge on genetic information. It reveals a correlation between the genetic information and the phenotype of an individual. Therefore, new starting points concerning the origin of diseases arise. A new nosology will develop. It will force researchers to emphasize more and more on the contribution of the--disturbed--genetic information system to the development of diseases. They will routinely carry out genome analyses on the following four already established levels: 1. phenotype level, 2. biochemical level, 3. chromosomal level, 4. molecular genetic level. Practicians mustn't close their mind to these new possibilities and methods: The three classical tasks of medicine--diagnosis, prevention and therapy--will be supplemented considerably by an earlier (presymptomatic) and more precise diagnosis that is furthermore independent of the organ. Moreover, there is the increasing possibility to predict the risk to develop a disease for descendants in certain partnerships more precisely and, if necessary, to diagnose prenatally. From the medical point of view, these advances are predominantly positive and to the patient's benefit. But it is pointed out that the diagnostic progress also raises new problems which were previously unknown. The answers will have to be given by society as a whole.

Chromosome Mapping↗

PubMed1999

ICH-harmonised guidances on genotoxicity testing of pharmaceuticals: evolution, reasoning and impact.

The International Conference on Harmonisation of Technical Requirements for Registration of Pharmaceuticals for Human Use (ICH) has convened an expert working group which consisted of the authors of this paper and their respective committees, consulting groups and task forces. Two ICH guidances regarding genotoxicity testing have been issued: S2A, 'Guidance on Specific Aspects of Regulatory Genotoxicity Tests' and S2B, 'Genotoxicity: A Standard Battery for Genotoxicity Testing of Pharmaceuticals.' Together, these guidance documents now form the regulatory backbone for genotoxicity testing and assessment of pharmaceuticals in the European Union, Japan, and the USA. These guidances do not constitute a revolutionary new approach to genotoxicity testing and assessment, instead they are an evolution from preexisting regional guidelines, guidances and technical approaches. Both guidances describe a number of specific criteria as well as a general test philosophy in genotoxicity testing. Although these guidances were previously released within the participating regions in their respective regulatory communiqués, to ensure their wider distribution and better understanding, the texts of the guidances are reproduced here in their entirety (see Appendix A) and the background for the recommendations are described. The establishment of a standard battery for genotoxicity testing of pharmaceuticals was one of the most important issues of the harmonisation effort. This battery currently consists of: (i) a test for gene mutation in bacteria, (ii) an in vitro test with cytogenetic evaluation of chromosomal damage with mammalian cells or an in vitro mouse lymphoma tk assay, (iii) an in vivo test for chromosomal damage using rodent hematopoietic cells. A major change in testing philosophy is the acceptance of the interchangeability of testing for chromosomal aberrations in mammalian cells and the mouse lymphoma tk assay. This agreement was reached on the basis of the extensive review of databases and newly generated experimental data which are in part described in this publication. The authors are fully aware of the fact that some of the recommendations given in these ICH guidances are transient in nature and that the dynamic qualities and ongoing evolution of genetic toxicology makes necessary a continuous maintenance process that would serve to update the guidance as necessary.

Animals↗

PubMed1981

The centralized prenatal genetics screening program of New York City: I. Developmental phase.

The increasing demand in New York City for prenatal diagnosis of genetic disorders has necessitated the development of a large-scale, centralized prenatal genetic screening program. The objective of this program is eventually to serve 3,000 to 4,000 at-risk New York City pregnant women annually. Through the teamwork of a task force comprising representatives from the New York Scientists' Committee for Public Information (SCPI), the Medical and Health Research Association of New York City Departments of Health, and five different advisory committees, the centralized Prenatal Diagnosis Laboratory of New York City (PDL) was designed and established. While this program aims to provide high quality, centralized laboratory service for the prenatal detection of chromosome abnormalities and open neural tube defects, it also emphasizes quality-controlled services in genetic counseling, aminocentesis, ultrasound monitoring, obstetric care, and patient follow-up. Genetic counseling by PDL-employed counselors is made available to patients whenever the participating hospital lacks such service or cannot handle their patient load. In addition, PDL has launched a vigorous public health education program. A detailed guideline for the program was prepared describing the highest standards of quality for each component. The initial step was th developmental phase that included establishing the advisory committees, searching for sponsors, preparing guidelines, developing the health education program, renovating the laboratory site, purchasing and installing equipment, and recruiting of staff. The experience gained from this endeavor will be of value in the development of similar large-scale prenatal diagnosis programs.

Amniocentesis↗