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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↗
PubMed2005

Knowledge, perceptions, and attitudes of advanced practice nursing students regarding medical genetics.

PURPOSE: To describe the current medical genetic knowledge and perceptions of graduate advanced practice nursing (advanced practice nurse [APN]/nurse practitioner and nurse anesthetist) students using survey data for future integration of genetic topics, principles, and healthcare issues into curriculum. DATA SOURCES: Survey data of APNs' perceived knowledge of genetics and a review of the literature from past research studies of students and current articles from professional journals and organizations. Web sites were those of the National Coalition of Health Professions for Education in Genetics and National Institutes of Health, Human Genome Research Institute; professional organizations; and the authors' professional, clinical, and educational experiences. CONCLUSIONS: Most APN students perceived they had minimum knowledge and prior training regarding medical genetics. There is a need to integrate genetic concepts, principles, and medical conditions into advanced practice nursing curriculum and to provide clinical experiences in genetic conditions across the life span and throughout the health and illness spectrum. APN students have positive attitudes toward integrating genetics into graduate curricula. Potential methods for program integration include readings, small group discussion, standardized patients, and role-play as measures to increase information. IMPLICATIONS FOR PRACTICE: The National Coalition for Health Profession Education in Genetics, the American Nursing Association, and the American College of Nursing Education have recommended integration of genetics knowledge and skills into routine health care to provide effective interventions for individuals and families. However, previous research and data from this study have revealed that many nurses have minimal training in genetics. Advanced practice nurses must be knowledgeable on genetic principles, topics, and the ethical, legal, and social implications related to medical genetics to increase the ability to diagnose, prevent, and treat diseases and to provide effective care for individuals and families.

Adult↗
PubMed2006

An overview of ethnicity and assessment of family history in primary care settings.

PURPOSE: To discuss the importance of and the nurse practitioner's (NP's) role in the assessment of ethnicity/family of origin in conducting a multigenerational family history in primary care settings. DATA SOURCES: A review of the literature on past research results addressing racial and ethnic disparities and current articles from scientific journals exploring the relationship between race and genetics. Web sites were from the National Institutes of Health, the Human Genome Research Institute, the National Cancer Institute, and the Health and Human Services Minority Health and Disparities report. CONCLUSIONS: The family history has received renewed interest due to the sequencing of the human genome. A multigenerational family history is an important first step in screening for a multitude of disorders impacted by genetic susceptibility, shared environments, and common behaviors. Assessment of the patient's ethnicity/family of origin is an integral part of the multigenerational family history, particularly in the diagnosis of chronic diseases and the assessment of risks for genetic disorders. The multigenerational family history is important in diagnosis, predictive genetic testing, disease prevention, and health promotion. Challenges facing NPs and the utilization of a multigenerational family history in the current U.S. health system include (a) training clinicians on the correct assessment and utilization of a multigenerational family history, (b) assessment of the subtleties of ethnicity and identifying multiple ethnic groups within a family, (c) collection of the family history in a manner that is sensitive to the cultural beliefs of individuals, and (d) avoidance of stereotyping. IMPLICATIONS FOR PRACTICE: Significant advances in genetics and genetic testing requires that NPs be well versed in collecting and interpreting a multigenerational family history to include assessment of the patient/family's ethnicity/family of origin. The ability to effectively conduct and evaluate the individual's and family's health risk through a multigenerational family history will be important in diagnosis, health promotion, disease prevention, and the determination for genetic counseling referral and predictive testing when appropriate. Assessment of risk and prevention of disease is also important in reducing health disparities.

Attitude to Health↗
PubMed2005

The institute for genomic research Osa1 rice genome annotation database.

We have developed a rice (Oryza sativa) genome annotation database (Osa1) that provides structural and functional annotation for this emerging model species. Using the sequence of O. sativa subsp. japonica cv Nipponbare from the International Rice Genome Sequencing Project, pseudomolecules, or virtual contigs, of the 12 rice chromosomes were constructed. Our most recent release, version 3, represents our third build of the pseudomolecules and is composed of 98% finished sequence. Genes were identified using a series of computational methods developed for Arabidopsis (Arabidopsis thaliana) that were modified for use with the rice genome. In release 3 of our annotation, we identified 57,915 genes, of which 14,196 are related to transposable elements. Of these 43,719 non-transposable element-related genes, 18,545 (42.4%) were annotated with a putative function, 5,777 (13.2%) were annotated as encoding an expressed protein with no known function, and the remaining 19,397 (44.4%) were annotated as encoding a hypothetical protein. Multiple splice forms (5,873) were detected for 2,538 genes, resulting in a total of 61,250 gene models in the rice genome. We incorporated experimental evidence into 18,252 gene models to improve the quality of the structural annotation. A series of functional data types has been annotated for the rice genome that includes alignment with genetic markers, assignment of gene ontologies, identification of flanking sequence tags, alignment with homologs from related species, and syntenic mapping with other cereal species. All structural and functional annotation data are available through interactive search and display windows as well as through download of flat files. To integrate the data with other genome projects, the annotation data are available through a Distributed Annotation System and a Genome Browser. All data can be obtained through the project Web pages at http://rice.tigr.org.

Computational Biology↗
PubMed1999

Functional genomics: technological challenges and opportunities.

In April, the Merck Genome Research Institute and the National Cancer Institute's Cancer Genome Anatomy Project, both supporters of functional genomics technology development and research, brought together a group of 27 scientists working at the forefront of this new field. Here we report on the presentations, discussions, and outcomes from this highly interactive and stimulating meeting held at the Banbury Center.

Animals↗
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↗
PubMed1998

Forum on the future of academic medicine: session V--implications of basic and applied research for AMCs.

The latest meeting of the AAMC's Forum on the Future of Academic Medicine, on April 29, 1998, opened with a talk by Francis S. Collins, MD, PhD, director of the National Human Genome Research Institute, who reviewed the significant progress that the Human Genome Project (HGP) has made and speculated on how genetic discoveries and technologies would transform health-related research and ultimately the practice of medicine. The HGP's findings will offer clear improvements in diagnosis and prevention, and eventually in treatments, and the relationship between the academic medical center and the pharmaceutical industry will change--but remain good--as that industry applies the findings of the HGP. He stressed the need for the public and health care providers to develop a greater understanding of genetic issues, and urged changes in medical education to accomplish this. Forum members and Dr. Collins discussed the ethics and economics in patient care resulting from genetic research; forum members also asked whether academic medical centers could profit from genetic research findings. The second speaker was John Eisenberg, MD, administrator of the Agency for Health Care Policy and Research, which fosters health care research and disseminates to clinicians and others the findings of such research. Among other topics, Dr. Eisenberg described the new emphasis on health care outcomes and quality and described how his agency promotes research in these areas. Forum members asked who would pay for the information systems needed to communicate the findings of health services research and also noted that there is an expanding definition of health that places new pressures on already stressed academic medical centers, their missions, and their curricula, which must change. Michael Whitcomb, MD, of the AAMC, noted that the view that medical schools can't change their curricula has been proved wrong, and that 24 medical schools are working with the AAMC's Medical Schools Objectives Project on curricular reform. The forum closed with discussion of a few broader issues affecting academic medical centers.

Academic Medical Centers↗
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↗
PubMed2005

Oncogenomics 2005 meeting report: dissecting cancer through genome research.

The Oncogenomics Conference was held on February 2 to 5, 2005 at the Omni San Diego Hotel, San Diego, CA. The meeting chairpersons were Dr. Jeffrey Trent (Translational Genomics Research Institute, Phoenix, AZ) and Dr. Nicholas Dracopoli (Bristol-Myers Squibb Pharmaceutical Research Institute, Princeton, NJ). This fourth conference sponsored by the AACR brought together a diverse group of scientists working in the fields of genome research, cancer biology, and epidemiology, and explored how genomic research can be used most effectively to impact the clinical response to cancer. Advances in the clinical application of pharmacogenomics to predict response to oncology therapeutic modalities led to a dramatic increase in the number of presentations and posters with a clinical focus at this year's meeting. The keynote address was given by Dr. William Evans (St. Jude Children's Hospital, Memphis, TN) who discussed the pharmacogenomics of acute lymphoblastic leukemia as a cancer paradigm.

Animals↗
PubMed2006

The snail (Biomphalaria glabrata) genome project.

In 2001, ideas for a snail genome project were discussed at the American Society of Parasitologists meeting (New Mexico) and a snail genome consortium was subsequently established (the first consortium meeting was held in 2005). A proposal for sequencing the snail genome was submitted to the National Human Genome Research Institute, and Biomphalaria glabrata was prioritized as a non-mammalian sequencing target in 2004. The sequencing of the genome of this medically important snail is now underway.

Animals↗
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↗
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↗