Predictive genetic testing: from basic research to clinical practice.

  title={Predictive genetic testing: from basic research to clinical practice.},
  author={Neil A. Holtzman and Patricia Murphy and Michael Watson and Patricia Barr},
  volume={278 5338},
As increasing numbers of genes are identified and associated with human diseases, researchers are considering how to bring their discoveries from the research bench to the clinic. Holtzman, Murphy, Watson, and Barr, who were part of a Task Force on Genetic Testing sponsored by the National Institutes of Health and U.S. Department of Energy, discuss policies for regulating the development of genetic tests so that the full potential of gene discovery to help the general population can be realized… 

Bringing genetic tests into the clinic.

To ensure the safe and effective use of genetic tests, physicians must face several issues--in which the crucial point may be not so much that a test is genetic as that it is used predictively.

Development and integration of molecular genetic tests into clinical practice: the US experience

The goal is to identify gaps and weaknesses in the test validation process and to define the pivotal issues, including motivation, economics, intellectual property and the regulatory environment, in the development of genetic tests for prediction and diagnosis.

Ordering genetic tests and interpreting the results.

It will be of great help for otolaryngologists to familiarize themselves and remain up to date with the general terminology and interpretive criteria that go into clinical molecular genetic laboratory reports, in order to make it useful and understandable to clinicians and patients.

Insurance Issues in Genetic Testing for Cancer

Advances in genomic technology have given rise to new approaches in the gathering and use of genetic information, particularly that derived from genetic tests, and concerns over maintaining the confidentiality of such information and preventing “genetic discrimination” are raised.

The future of genetic counselling: an international perspective

It is predicted that genetic counselling, specifically for more common diseases, might be provided in the decades to come with an expansion of professional roles and expertise for many health care providers and the need for counselling practices to become more evidence based.

On the use of population-based registries in the clinical validation of genetic tests for disease susceptibility

With adequate protections of human subjects, studies involving population-based registries of disease will increasingly become valuable in validating the numerous genetic tests that will emerge from advances in human genetic research and the Human Genome Project.

Familial frontotemporal dementia: from gene discovery to clinical molecular diagnostics.

The transition of genetic testing for rare diseases from the research laboratory to the clinical laboratory requires a validation process that maintains the quality-control elements necessary for genetic testing but is flexible enough to permit testing to be developed for the benefit of patients and families.

Ethical issues in genetic testing of children.

  • L. RossM. Moon
  • Medicine
    Archives of pediatrics & adolescent medicine
  • 2000
Clinwa genetics is an integral part of pediatrics and newborn screening for genetic diseases is the only aspect of genetics that has been incorporated as routine pediatric practice.

Genomics and cardiovascular disease.

The results of genetic research, education, and teaching will lead to a new understanding of genes and pathways, resulting in powerful new therapeutic approaches to CVD.

The genetics revolution

Dr Cunningham presents an overview of ethical and legal concerns in genetic research and challenges us to look ahead and prepare for the future.



Genetic Discrimination and Health Insurance: An Urgent Need for Reform

The accelerated pace of gene discovery and molecular medicine portend a future in which information about a plethora of disease genes can be readily obtained, and so does the potential for discrimination in health insurance coverage for an ever increasing number of Americans.

Ethical and legal issues in genetic epidemiology.

It is hoped it will become clear that people considering genetic tests or treatments need reliable information on which to make decisions, and society needs to develop measures to prevent the misuse of genetic testing and genetic information.

Screening for colorectal cancer.

Screening for colorectal cancer can decrease mortality due to this disease by detecting cancers at earlier stages and allowing the removal of adenomas, thus preventing the subsequent development of cancer.

Genetic dissection of complex traits.

This article synthesizes the current state of the genetic dissection of complex traits--describing the methods, limitations, and recent applications to biological problems.

What does it mean to be a cancer gene carrier? Problems in establishing causality from the molecular genetics of cancer.

Although an individual carrier of a mutant gene within a cancer-prone family has an increased risk of malignancy, nutritional, pharmacologic, or other interventions may still confer protection, and extrapolations from cancer- prone families to the general population are even more problematic.

Recommendations for Follow-up Care of Individuals With an Inherited Predisposition to Cancer: I. Hereditary Nonpolyposis Colon Cancer

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.

RET mutations in human disease.

Response to treatment in hereditary metabolic disease: 1993 survey and 10-year comparison.

Progress in the treatment of hereditary metabolic disease is better than it was, but it is still only a partial success, attributable to greater success with organ and tissue transplantation, better pharmacotherapy, and better support systems.

Linkage of early-onset familial breast cancer to chromosome 17q21.

Ch Chromosome 17q21 appears to be the locale of a gene for inherited susceptibility to breast cancer in families with early-onset disease, and genetic analysis yields a lod score of 5.98 for linkage of breast cancer susceptibility to D17S74 in early-ONSet families and negative lod scores in familiesWith late-onsets disease.

BRCA genes--bookmaking, fortunetelling, and medical care.

  • B. Healy
  • Medicine
    The New England journal of medicine
  • 1997
The world cheered the discovery of the BRCA1 cancer-susceptibility gene in 19941 and was chilled by its implications. A woman with a strong family history of breast or ovarian cancer, or both, who ...