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Screening for cystic fibrosis carrier state.

Carrier screening for cystic fibrosis as part of reproductive health care, including prenatal care, is not the standard of practice at this time. However, a recent National Institutes of Health Consensus Development Conference recommended that cystic fibrosis carrier screening should be offered to adults with a family history of cystic fibrosis, partners of individuals with cystic fibrosis, couples planning a pregnancy, and couples seeking prenatal testing. A workshop convened to discuss the implementation of these recommendations concluded that several issues must be resolved before these recommendations can be implemented. This commentary reviews the discussions that occurred and the conclusions that were reached at this workshop. Some of the subjects considered by the workshop participants were: the goals and outcomes of carrier screening; the continuum from making a test available to offering that test; to whom, when, and how cystic fibrosis testing should be offered; laboratory practice and quality assurance; provider and patient education; and insurance issues. The workshop participants concluded that those populations to whom carrier screening should be offered might include individuals and couples in high-risk groups who seek preconception counseling, infertility care, or prenatal care. High-risk groups include individuals of white northern European or of Ashkenazi-Jewish descent, those whose partners have cystic fibrosis, and those with a family history of cystic fibrosis. Before screening can be offered systematically to these individuals or couples, practice guidelines, educational materials for providers and patients, informed-consent protocols, and laboratory standards for testing must be developed.

Consensus Development Conferences, NIH as Topic↗

Insomnia: assessment and management in primary care. National Heart, Lung, and Blood Institute Working Group on Insomnia.

Patients with insomnia may experience one or more of the following problems: difficulty falling asleep, difficulty maintaining sleep, waking up too early in the morning and nonrefreshing sleep. In addition, daytime consequences such as fatigue, lack of energy, difficulty concentrating and irritability are often present. Approximately 10 percent of adults experience persistent insomnia, although most patients do not mention it during routine office visits. Asking sleep-related questions during the general review of systems and asking patients with sleep complaints to keep a sleep diary are helpful approaches in detecting insomnia. Behavior and pharmacologic therapies are used in treating insomnia. Behavior approaches take a few weeks to improve sleep but continue to provide relief even after training sessions have ended. Hypnotic medications are safe and effective in inducing, maintaining and consolidating sleep. Effective treatment of insomnia may improve the quality of life for many patients.

Adult↗

Genetic testing for cystic fibrosis. National Institutes of Health Consensus Development Conference Statement on genetic testing for cystic fibrosis.

OBJECTIVE: To provide health care providers, patients, and the general public with a responsible assessment of the optimal practices for genetic testing for cystic fibrosis (CF). PARTICIPANTS: A nonfederal, nonadvocate, 14-member panel representing the fields of genetics, obstetrics, internal medicine, nursing, social work, epidemiology, pediatrics, psychiatry, genetic counseling, bioethics, health economics, health services research, law, and the public. In addition, 21 experts from these same fields presented data to the panel and a conference audience of 500. EVIDENCE: The literature was searched through MEDLINE, and an extensive bibliography of references was provided to the panel and the conference audience. Experts prepared abstracts with relevant citations from the literature. Scientific evidence was given precedence over clinical anecdotal experience. CONSENSUS PROCESS: The panel, answering predefined questions, developed its conclusions based on the scientific evidence presented in open forum and the scientific literature. The panel composed a draft statement that was read in its entirety and circulated to the experts and the audience for comment. Thereafter, the panel resolved conflicting recommendations and released a revised statement at the end of the conference. The panel finalized the revisions within a few weeks after the conference. CONCLUSIONS: Genetic testing for CF should be offered to adults with a positive family history of CF, to partners of people with CF, to couples currently planning a pregnancy, and to couples seeking prenatal care. The panel does not recommend offering CF genetic testing to the general population or newborns. The panel advocates active research to develop improved treatments for people with CF and continued investigation into the understanding of the pathophysiology of the disease. Comprehensive educational programs targeted to health care professionals and the public should be developed using input from people living with CF and their families and from people from diverse racial and ethnic groups. Additionally, genetic counseling services must be accurate and provide balanced information to afford individuals the opportunity to make autonomous decisions. Every attempt should be made to protect individual rights, genetic and medical privacy rights, and to prevent discrimination and stigmatization. It is essential that the offering of CF carrier testing be phased in over a period to ensure that adequate education and appropriate genetic testing and counseling services are available to all persons being tested.

Consensus↗

Prevention of recurrent nephrolithiasis.

The first episode of nephrolithiasis provides an opportunity to advise patients about measures for preventing future stones. Low fluid intake and excessive intake of protein, salt and oxalate are important modifiable risk factors for kidney stones. Calcium restriction is not useful and may potentiate osteoporosis. Diseases such as hyperparathyroidism, sarcoidosis and renal tubular acidosis should be considered in patients with nephrolithiasis. A 24-hour urine collection with measurement of the important analytes is usually reserved for use in patients with recurrent stone formation. In these patients, the major urinary risk factors include hypercalciuria, hyperoxaluria, hypocitraturia and hyperuricosuria. Effective preventive and treatment measures include thiazide therapy to lower the urinary calcium level, citrate supplementation to increase the urinary citrate level and, sometimes, allopurinol therapy to lower uric acid excretion. Uric acid stones are most often treated with citrate supplementation. Data now support the cost-effectiveness of evaluation and treatment of patients with recurrent stones.

Consensus Development Conferences, NIH as Topic↗

[Radiotherapy and chemotherapy in the treatment of cancer of the rectum].

The North American consensus conference held in 1990 concluded that the best currently available adjuvant treatment for cancer of the rectum (T3, N1 to N3) was postoperative combination radiotherapy and chemotherapy. In 1994, the consensus conference held in Paris concluded that the benefit observed after preoperative irradiation warranted assessment of the effect of preoperative radiochemotherapy. To decide between these two consensus conclusions, it would be most logical to compare preoperative radiotherapy with postoperative radiochemotherapy in a group of patients with similar echo-endoscopic or imaging findings.

Antimetabolites, Antineoplastic↗

An earful.

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Consensus Development Conferences, NIH as Topic↗

Interventions to prevent HIV risk behaviors. National Institutes of Health Consensus Development Conference Statement February 11-13, 1997.

OBJECTIVE: To provide health care providers, patients, and the general public with a responsible assessment of behavioral intervention methods that may reduce the risk of HIV infection. PARTICIPANTS: A non-Federal, nonadvocate, 12-member panel representing the fields of psychiatry, psychology, behavioral and social science, social work, and epidemiology. In addition, 15 experts in psychiatry, psychology, behavioral and social science, social work, and epidemiology presented data to the panel and a conference audience of 1000. EVIDENCE: The literature was searched through Medline and an extensive bibliography of references was provided to the panel and the conference audience. Experts prepared abstracts with relevant citations from the literature. Scientific evidence was given precedence over clinical anecdotal experience. CONSENSUS PROCESS: The panel, answering predefined questions, developed its conclusions based on the scientific evidence presented in open forum and the scientific literature. The panel composed a draft statement that was read in its entirety and circulated to the experts and the audience for comment. Thereafter, the panel resolved conflicting recommendations and released a revised statement at the end of the conference. The panel finalized the revisions within a few weeks after the conference. CONCLUSIONS: Behavioral interventions to reduce risk for HIV/AIDS are effective and should be disseminated widely. Legislative restriction on needle exchange programs must be lifted because such legislation constitutes a major barrier to realizing the potential of a powerful approach and exposes millions of people to unnecessary risk. Legislative barriers that discourage effective programs aimed at youth must be eliminated. Although sexual abstinence is a desirable objective, programs must include instruction on safer sex behaviors. The erosion of funding for drug abuse treatment programs must be halted because research data clearly show that such programs reduce risky drug abuse behavior and often eliminate drug abuse itself. Finally, new research must focus on emerging risk groups such as young people, particularly those who are gay and who are members of ethnic minority groups, and women, in whom transmission of HIV virus to their children remains a major public health problem.

Female↗