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At least 19 recordsLinked to original sources
PubMed1997

The Ethical, Legal, and Social Implications Research Program at the National Human Genome Research Institute.

Organizers of the Human Genome Project (HGP) understood from the beginning that the scientific activities of mapping and sequencing the human genome would raise ethical, legal, and social issues that would require careful attention by scientists, health care professionals, government officials, and the public. The establishment of the ELSI (ethical, legal, and social implications) programs at the National Human Genome Research Institute (NHGRI) and the Department of Energy (DOE) was thought to be vital to the success of the HGP in the United States. It also provided a novel approach to the simultaneous study of ethical, legal, and social issues and basic scientific issues. Eric Juengst, the first director of the ELSI program, described its origins in a previous issue of the Kennedy Institute of Ethics Journal (Juengst 1991). Now in its seventh year, the ELSI program has accomplished much. This article summarizes the evolution and goals of the ELSI program at NHGRI, outlines the program's current research priorities with examples of activities within each priority area, and provides a look to the future, including the initiation of a strategic planning process.

Confidentiality↗
PubMed1997

Recommendations for follow-up care of individuals with an inherited predisposition to cancer. I. Hereditary nonpolyposis colon cancer. Cancer Genetics Studies Consortium.

OBJECTIVE: To provide recommendations for cancer surveillance and risk reduction for individuals carrying mutations associated with hereditary nonpolyposis colon cancer (HNPCC). PARTICIPANTS: A task force with expertise in medical genetics, oncology, primary care, gastroenterology, and epidemiology convened by the Cancer Genetics Studies Consortium (CGSC), organized by the National Human Genome Research Institute (previously the National Center for Human Genome Research). EVIDENCE: Studies evaluating cancer risk, surveillance, and risk reduction in individuals genetically susceptible to colon cancer were identified using MEDLINE and bibliographies of articles thus identified. Indexing terms used were "genetics" in combination with "colon cancer," and "screening" in combination with "cancer family" and "HNPCC." For studies evaluating specific interventions, quality of evidence was assessed using criteria of the US Preventive Services Task Force. CONSENSUS PROCESS: The task force developed recommendations through discussions over a 14-month period. CONCLUSIONS: Efficacy of cancer surveillance or other measures to reduce risk in individuals who carry cancer-predisposing mutations is unknown. Based on observational studies, colonoscopy every 1 to 3 years starting at age 25 years is recommended for individuals known to have HNPCC-associated mutations. Endometrial cancer screening is also recommended, based on expert opinion concerning presumptive benefit. No recommendation is made for or against prophylactic surgery (ie, colectomy, hysterectomy); these surgeries are an option for mutation carriers, but evidence of benefit is lacking. It is recommended that individuals considering genetic testing be counseled regarding the unknown efficacy of measures to reduce risk and that care for individuals with cancer-predisposing mutations be provided whenever possible within the context of research protocols designed to evaluate clinical outcomes.

Adaptor Proteins, Signal Transducing↗
PubMed1997

Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. Cancer Genetics Studies Consortium.

OBJECTIVE: To provide recommendations for cancer surveillance and risk reduction for individuals carrying mutations in the BRCA1 or BRCA2 genes. PARTICIPANTS: A task force with expertise in medical genetics, oncology, primary care, gastroenterology, and epidemiology convened by the Cancer Genetics Studies Consortium (CGSC), organized by National Human Genome Research Institute (previously the National Center for Human Genome Research). EVIDENCE: Studies evaluating cancer risk, surveillance, and risk reduction in individuals genetically susceptible to breast and ovarian cancer were identified using MEDLINE (National Library of Medicine) and from bibliographies of articles thus identified. Indexing terms used were "genetics" in combination with "breast cancer," "ovarian cancer," and "screening," or "surveillance" in combination with "cancer family" and "BRCA1" and "BRCA2." For studies evaluating specific interventions, quality of evidence was assessed using criteria of the US Preventive Services Task Force. CONSENSUS PROCESS: The task force developed recommendations through discussions over a 14-month period. CONCLUSIONS: Efficacy of cancer surveillance or other measures to reduce risk in individuals who carry cancer-predisposing mutations is unknown. Based on expert opinion concerning presumptive benefit, early breast cancer and ovarian cancer screening are recommended for individuals with BRCA1 mutations and early breast cancer screening for those with BRCA2 mutations. No recommendation is made for or against prophylactic surgery (eg, mastectomy, oophorectomy); these surgeries are an option for mutation carriers, but evidence of benefit is lacking, and case reports have documented the occurrence of cancer following prophylactic surgery. It is recommended that individuals considering genetic testing be counseled regarding the unknown efficacy of measures to reduce risk and that care for individuals with cancer-predisposing mutations be provided whenever possible within the context of research protocols designed to evaluate clinical outcomes.

Antineoplastic Agents, Hormonal↗
PubMed1999

State of the art: interdisciplinary collaboration for health professional education in genetics.

Nursing has a long and productive history of interdisciplinary cooperation in providing education to nurses as well as other professionals. Interdisciplinary education is effective in socializing students and practicing clinicians for practice incorporating new discoveries, in areas such as genetics, for continuing relevance in health care delivery. The National Coalition for Health Professional Education in Genetics (NCHPEG), established in 1996 with the cooperation of the American Nurses Association, the American Medical Association, and the National Human Genome Research Institute at the National Institutes of Health, has provided leadership in bringing advances in genetics to the nation's care providers in nearly all health-related disciplines. Nursing plays a key role in this model initiative aimed at new genetic discoveries to improve the health care of all Americans.

American Medical Association↗
PubMed1997

The clinical introduction of genetic testing for Alzheimer disease. An ethical perspective.

OBJECTIVE: Primary caregivers should be aware of recent progress in the genetics of Alzheimer disease (AD) and of the clinical and ethical considerations raised regarding the introduction of genetic testing for purposes of disease prediction and susceptibility (risk) analysis in asymptomatic individuals and diagnosis in patients who present clinically with dementia. This statement addresses arguments for and against clinical genetic testing. PARTICIPANTS: The 20 participants were selected by the investigators (S.G.P., T.H.M., A.B.Z., and P.J.W.) to achieve balance in the areas of genetics, counseling, ethics, and public policy, and to include leadership from related consensus projects. The consensus group met twice in closed meetings and carried on extensive correspondence over 2 years (1995-1997). The project was supported by the National Human Genome Research Institute of the National Institutes of Health. EVIDENCE: All 4 involved chromosomes were discussed in group meetings against a background of information from several focus group sessions with AD-affected families. The focus groups comprised volunteers identified by the Cleveland Area Chapter of the Alzheimer's Disease and Related Disorders Association and represented a variety of ethnic populations. CONSENSUS PROCESS: The first draft was written in April 1996 by the principal investigator (S.G.P.) after the consensus group had met twice. The draft was mailed to all consensus group members 3 times over 6 months for extensive response and redrafting by the principal investigator until all members were satisfied. CONCLUSIONS: Except for autosomal dominant early-onset families, genetic testing in asymptomatic individuals is unwarranted. Use of APOE genetic testing as a diagnostic adjunct in patients already presenting with dementia may prove useful but it remains under investigation. The premature introduction of genetic testing and possible adverse consequences are to be avoided.

Advisory Committees↗
PubMed2006

Sleeping beauty: a novel cancer gene discovery tool.

The National Cancer Institute and the National Human Genome Research Institute recently announced a 3-year 100-million-dollar pilot study to use large-scale resequencing of genes in human tumors to identify new cancer genes. The hope is that some of these genes can be used as drug targets for developing better therapeutics for treating cancer. Although this effort will identify new cancer genes, it could be made more efficient by preferentially resequencing genes identified as novel candidate cancer genes in animal models of cancer. Although retroviral insertional mutagenesis has proven to be an effective tool for identifying novel cancer genes in the mouse, these studies are limited by the fact that retroviral mutagenesis primarily induces hematopoietic and mammary cancer, but little else, while the majority of cancers affecting humans are solid tumors. Recently, two groups have shown that sleeping beauty (SB) transposon-based insertional mutagenesis can also identify novel candidate cancer genes in the mouse. Unlike retroviral infection, SB transposition can be controlled to mutagenize any target tissue and thus potentially induce many different kinds of cancer, including solid tumors. SB transposition in animal models of cancer could therefore greatly facilitate the identification of novel human cancer genes and the development of better cancer therapies.

Animals↗
PubMed2000

Recruitment experience in the first phase of the African American Hereditary Prostate Cancer (AAHPC) study.

The African American Hereditary Prostate Cancer (AAHPC) Study is an ongoing multicenter genetic linkage study organized by Howard University and the National Human Genome Research Institute (NHGRI), with support from the Office for Research on Minority Health and the National Cancer Institute. The goals of the study are to: (i) look for evidence of involvement of chromosome 1q24-25 (HPC1) in African American men with hereditary prostate cancer (HPC) and (ii) conduct a genome-wide search for other loci associated with HPC in African American men. To accomplish these goals, a network has been established including Howard University, the NHGRI, and six Collaborative Recruitment Centers (CRCs). The CRCs are responsible for the identification and enrollment of 100 African American families. To date, 43 families have been enrolled. Recruitment strategies have included mass media campaigns, physician referrals, community health-fairs/prostate cancer screenings, support groups, tumor registries, as well as visits to churches, barber shops, and universities. By far, the most productive recruitment mechanisms have been physician referrals and tumor registries, yielding a total of 35 (81%) families. Approximately 41% (n = 3400) of probands initially contacted by phone or mail expressed interest in participating; the families of 2% of these met the eligibility criteria, and 75% of those families have been enrolled in the study, indicating a 0.5% recruitment yield (ratio of participants to contacts). As the first large-scale genetic linkage study of African Americans, on a common disease, the challenges and successes of the recruitment process for the AAHPC Study should serve to inform future efforts to involve this population in similar studies.

Black or African American↗
PubMed2005

Dogs really are man's best friend--canine genomics has applications in veterinary and human medicine!

In 2003, the US National Human Genome Research Institute (NHGRI) agreed to fund a project to sequence the entire genome of a boxer dog named Tasha. Although the USA is a country of dog lovers, with approximately 38 million households owning one or more dogs, why did one of the National Institutes of Health countenance the use of 30 m dollars for such a purpose? The answer is that the NHGRI recognised the value of the dog as an unrivalled model for the study of human disease. In this paper, the reasons why the dog is such a good model are examined. Examples of where the study of disease in dogs is increasing the understanding of the genetic basis of human disease, of the development of improved diagnostic assays and of the evaluation of clinical therapies are provided.

Animals↗
PubMed1998

The blossoming of bioethics at NIH.

The establishment of the Department of Clinical Bioethics at the Warren G. Magnuson Clinical Center of the National Institutes of Health (NIH) has coincided with a burgeoning of interest and activity related to bioethical issues at NIH. The department has precipitated a reexamination and revitalization of existing bioethics activities in the Clinical Center and has launched new programs especially in the areas of education and research. In addition, the department contributes to the work of others throughout NIH who address bioethical issues.

Academies and Institutes↗
PubMed2005

Successful implementation of genetic Education for Native Americans workshops at national conferences.

Genetic Education for Native Americans (GENA) was a National Human Genome Research Institute (NHGRI)/Ethical, Legal, and Social Implications (ELSI)-funded educational intervention designed to provide a unique genetics education program for Native American college and university students. A curriculum was developed and implemented in workshops in geographically diverse settings throughout the United States, primarily in conjunction with regional and national scientific conferences that include substantial numbers of Native American attendees. The original curriculum includes 24 objectives and has been offered in two formats, as a 16-hr "comprehensive" program and in briefer workshops (referred to as "customized" hereafter) that are designed to include objectives for selected audiences. Both formats teach sufficient genetics to allow discussion and understanding of the ELSI and cultural issues related to genetics science. This article describes the evaluation findings from our implementation of both formats of the GENA curriculum.

Congresses as Topic↗
PubMedDate not supplied

Pediatric cystic fibrosis: evaluating costs and genetic testing.

The purpose of this article is to present a systematic, critical review of literature and data sources pertaining to pediatric cystic fibrosis, emphasizing and evaluating factors of costs and genetic testing. Cystic fibrosis is the most common fatal genetic disease in the United States. Therefore, its cause, prevalence, cost, and prevention make it important for review. Furthermore, the recent National Institutes of Health Consensus Statement on Genetic Testing for Cystic Fibrosis, the laboratory standards and guidelines published by the American College of Medical Genetics, the American College of Obstetricians and Gynecologists, and the National Human Genome Research Institute, and the increasing interest in genetic testing make it timely to discuss this major pediatric health topic. A broad educational effort, particularly among health care professionals, and genetic screening are advocated.

Child↗