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Newborn genetic screening: blessing or curse?

Newly discovered genes and advances in genetic screening programs prompt many questions reflecting the kinds of ethical dilemmas that go hand in hand with life-changing discoveries. Neonatal genetic screening has been a standard of care for some time, but as our knowledge in the field of genetics expands, should we continue with the same approach? What newborn genetic screening tests should be mandatory, and what are the long-range consequences associated with testing? This article reviews genetic modes of inheritance, outlines and explains the most common newborn screening tests, and enumerates the ethical issues associated with these screening procedures. The role of the neonatal nurse in the newborn genetic screening process is discussed.

Ethics, Nursing↗

[Pregnant women with HIV infection: medical decision].

The aim of this study was to review current knowledge of mother-to-fetus transmission of human immunodeficiency virus (HIV) and attempt to determine a rationale for decision making in infected women. The risk of transmission to the fetus varies from 20% for women with stage II infection to 50% in stage IV patients. The risk can be reduced to 8% with zidovudine (in stage II patients). Knowledge of the prevalence of HIV infection in women in different risk groups and geographic areas is important in evaluating risk; currently 80 to 500 infants are contaminated annually in France. Although clinical signs and laboratory results may be suggestive of late transmission, neither the mechanism nor the precise period of transmission are known. HIV-infection has no effect on the natural course of pregnancy. Screening tests should be performed for all pregnant women, but are not mandatory. A positive test should always be announced by the physician. The decision to continue the pregnancy must be based on several factors: term, disease severity and socioeconomic situation. If the pregnancy is continued, zidovudine (5 x 100 mg) should be prescribed through delivery. To date, there is no evidence favoring cesarean rather than vaginal delivery. Two steps are required for the infants: zidovudine for 6 weeks and artificial feeding. Social and psychological obstacles hinder progress in limiting disease transmission from mother to infant.

Decision Making↗

Drug testing as part of the war on drugs.

Drug testing programs in the United States may broadly be classified as mandatory (such as under DOT or Nuclear Regulatory Commission regulation) or nonmandatory. In the first group, a regulated employer is required by federal regulations to test. In the second, the employer chooses to test for reasons other than the federal requirements. It always was intended that the federal program would be the model for testing by private employers, and that mandatory testing would be extended to private employers who are regulated by various agencies of the federal government. This has happened. In addition, private employers who are not required to test under federal authority have instituted employee drug testing programs closely modeled on the federal program. Whether mandated or not, a well-designed and implemented drug testing program is a valuable tool in the effort to fight drugs in the workplace.

Government↗

Laboratory investigation of syphilis.

Without treatment, syphilis passes through primary, secondary, latent, and tertiary stages. The disease can be diagnosed directly by microscopic identification of the infective organism or serologically. Nontreponemal serologic tests are most suitable for screening and following response to therapy, while treponemal tests are used to confirm a positive nontreponemal test result. Biologic false positives are not uncommon. Because of the danger of infection to the fetus, serologic testing for syphilis is mandatory in all pregnant women. Nontreponemal tests can also be performed on CSF to document neurosyphilis.

False Positive Reactions↗

Epidemiological treatment and tests of cure in gonococcal infection: evidence for value.

OBJECTIVES: To evaluate the evidence for value of using epidemiological treatment and of using tests of cure in the management of gonococcal infections. METHODS: Medline was used to search the literature for well-conducted studies that had a bearing on the evaluation of these issues. CONCLUSIONS: Epidemiological treatment is treatment given to named contacts of patients after a history of exposure to disease but without or in advance of confirmatory pathological findings. It may be given when the clinician considers that the risk to the patient of unnecessary treatment is outweighed by the risk of complications of the infection or the probability of transmission of the infection to other contacts. It may be appropriate where detection by microscopy is relatively unreliable such as when infection of the cervix, rectum, or pharynx is suspected. If epidemiological treatment is given, then it does not obviate the need for confirmatory tests to be sent, tests of cure to be done, or for contact tracing. At least one test of cure is mandatory following treatment of gonorrhoea. The test of cure in women should include a blind rectal swab. For infection of the pharynx and rectum the chances of a false negative test of cure are higher and, therefore, more than one test of cure is required. An additional test of cure is also necessary in patients with salpingitis or disseminated gonococcal infection. This paper is a discussion of two interrelated issues in the management of gonorrhoea. It is based on two presentations by the author at a workshop organised by Dr Mark Fitzgerald entitled Development of audit measures and guidelines for good practice in the management of gonorrhoea and held at the Royal College of Physicians, London, in May 1995. The conclusions reached are based on the consensus view of the participants. For simplicity the two issues are dealt with consecutively.

Bacteriological Techniques↗

HIV infection among women in prison: an assessment of risk factors using a nonnominal methodology.

The relative contributions of needle use practices and sexual behaviors to human immunodeficiency virus (HIV) antibody seropositivity among 394 women incarcerated in Quebec were determined by risk factor assessment and serology with a nonnominal methodology. HIV positivity was found in 6.9% (95% confidence interval [CI] = 4.6, 9.9) of all participants and in 13% (95% CI = 8.6, 18.6) of women with a history of injection drug use. HIV seropositivity among women with a history of injection drug use was predicted by sexual or needle contact with a seropositive person, self-reported genital herpes, and having had a regular sexual partner who injected drugs, but it was not predicted by prostitution. Nonnominal testing is an ethical alternative to mandatory and anonymous unlinked testing among correctional populations.

Adolescent↗

AIDS prevention: legislative options.

This article reviews legislative options to prevent the transmission of HIV infection. It distinguishes between pre-exposure measures designed to prevent initial exposure, and post-exposure measures aimed at preventing infected individuals from exposing others. Part I identifies education as the key component of a comprehensive prevention program, and reviews options for pre-exposure education programs designed to avoid or minimize exposure. Part II reviews post-exposure prevention measures, focusing on reporting and contact tracing provisions. Mandatory reporting by name of individuals testing HIV positive and mandatory contact tracing are opposed as counterproductive prevention measures; voluntary partner notification is supported. Part III examines various prevention efforts for settings where there may be either a real or perceived risk of transmission of HIV infection. Part IV sets out conclusions.

Acquired Immunodeficiency Syndrome↗

Proficiency testing: now it is a reality.

On January 1, 1994, enrollment in an accredited proficiency testing program became mandatory under the CLIA regulations for physicians performing moderate and high complexity tests in their offices. Physicians not enrolled in programs are in violation of the standard.

Centers for Medicare and Medicaid Services, U.S.↗

Mandatory PKU screening: the other side of the looking glass.

The challenge that PKU screening programs face is to be effective without sacrificing individual liberty. Most states have assumed that this is impossible, and have enacted mandatory PKU screening tests. It now appears that in fact voluntary screening for PKU can be effective. Accordingly, it seems appropriate to reexamine existing mandatory screening statutes to determine if we can replace government coercion with voluntary informed consent. Focus should be placed on the proper role of the government in screening, and on improving the consent process, and not on those few couples who withhold consent.

Genetic Testing↗

HIV screening of surgeons and dentists: a cost-effectiveness analysis.

OBJECTIVE: To assess the cost-effectiveness of human immunodeficiency virus (HIV) screening strategies of surgeons and dentists. DESIGN: We constructed a model to project costs and HIV transmissions prevented over 15 years for four screening scenarios: 1) one-time voluntary screening, 2) one-time mandatory screening, 3) annual voluntary screening, and 4) annual mandatory screening. One-time screening occurs only in the first year of the program; annual screening occurs once each year. Under mandatory screening, all practitioners are tested and risks of practitioner-to-patient transmission are eliminated for all practitioners testing positive. Voluntary screening assumes 90% of HIV-positive and 50% of HIV-negative practitioners are tested, and risks of transmission in the clinical setting are eliminated for 90% of HIV-positive surgeons and dentists. All costs and benefits are discounted at 5% per annum over 15 years. RESULTS: Using "best-case" scenario assumptions, we find for surgeons that a one-time voluntary screening program would be most cost-effective, at $899,336 for every HIV transmission prevented. For dentists, the one-time voluntary program also is the most cost-effective, at $139,571 per transmission prevented. Annual mandatory programs were least cost-effective for both surgeons and dentists, at $63.3 million and $2.2 million per transmission prevented, respectively. CONCLUSIONS: HIV screening of surgeons and dentists ranks among the more expensive medical lifesaving programs, even using liberal assumptions about program effectiveness. Frequency of screening and whether testing is mandatory or voluntary dramatically affect cost per transmission prevented; these features should be considered carefully in designing specific HIV screening programs.

AIDS Serodiagnosis↗

Influence of test temperature and test speed on the mechanical strength of absorbable suture anchors.

PURPOSE: Absorbable implant materials offer various advantages but are mechanically far weaker than metals. Despite known temperature dependence of the biomechanical properties of these materials, mechanical testing has almost exclusively been performed at room temperature in the literature. In this study, the difference in mechanical performance at room and body temperature was assessed in vitro at different test speeds. TYPE OF STUDY: Biomechanical bench study. METHODS: Five absorbable suture anchor models were held in a metallic holder and loaded under tension using 0.5-mm steel wires until failure. Testing temperature was 20 degrees C +/- 1 degrees C or 37 degrees C +/- 1 degrees C, test speed was 50 mm/min or 5 mm/min. Tensile load at failure and failure mode were recorded. To test creep behavior, a constant load of 100 N was applied, and time to failure was recorded at both temperatures. RESULTS: Both raising the temperature and decreasing test speed significantly (P <.0001) impaired the mechanical performance of the tested implants. Increase of temperature (20 degrees C to 37 degrees C) resulted in a decrease of the maximal failure strength by up to 40% and decreased time to failure by up to 98% under static load. At 37 degrees, decreasing the test speed from 50 to 5 mm/min lowered the load to failure by up to 18%. Failure of the anchors always occurred by eyelet cutout of the wire. CONCLUSIONS: The lower the test speed, the higher is the influence of the testing temperature. Testing of implants at room temperature instead of body temperature may falsely improve test results by a factor of up to 50 under static load. Therefore, testing absorbable implants at body temperature seems mandatory, preferably at slow test speeds.

Absorbable Implants↗

[Rapid method of testing microbiol sensitivity to antibiotics].

The conventional technique for determining the sensitivity of bacteria to antibiotics is slow and a more rapid method becomes mandatory. The authors tested microbial sensitivity to antibiotics by measuring turbidity of the cultures in fluid medium. The method offers an orientation in the choice of an elective antibiotic within at most 4 hours.

Anti-Bacterial Agents↗