Promoting Safe and Effective Genetic Tests in the United States: Work of the Task Force on Genetic Testing

Holtzman, Neil A.

doi:10.1093/clinchem/45.5.732

Cited by 101 publications

(90 citation statements)

References 13 publications

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“…According to the U.S. Task Force on Genetic Testing, clinical utility and practice guidelines for genetic tests requires a systematic assessment of their usefulness and potential health-related application (Holtzman, 1997). Grosse et al assert that a screening or diagnostic test alone does not have inherit utility; because it is the adoption of therapeutic or preventive interventions that influence health outcomes, the clinical utility of a test depends on effective access to appropriate interventions (Grosse, 2006).…”

Section: Issues Of Genetic Counseling and Testing In Ibdmentioning

confidence: 99%

The Complexity and Challenges of Genetic Counseling and Testing for Inflammatory Bowel Disease

Cummings

Rubin

2006

Journal of Genetic Counseling

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Inflammatory bowel disease (IBD) is an umbrella term referring to two chronic idiopathic intestinal diseases: ulcerative colitis (UC) and Crohn's disease (CD). Both UC and CD are characterized by immune activation that leads to symptoms, but the location, severity and behavior of the inflammation varies among individuals and in characteristic ways between UC and CD. A majority of patients with IBD are diagnosed in young adulthood, but the response to therapy is variable and difficult to predict, with some patients demonstrating a prompt and effective remission while others have continuous symptoms that do not respond to existing medical options. Surgery remains a frequent and necessary occurrence among patients with IBD, but in UC it is considered curative, while in CD only temporizing. Clinical observations, epidemiological studies, and molecular genetics have provided strong evidence that both genetic and environmental factors are important determinants for disease susceptibility. In recent years, a number of genes have been identified that associate with CD and UC, although the clinical utility of these discoveries in patients or in susceptible family members has not been determined. Nonetheless, it is hoped that these fundamental advances in our understanding of IBD will lead to better therapies for patients and prevention strategies for those who are susceptible. Effective incorporation of clinical genetic testing for IBD into practice will require appropriate education and counseling.

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Section: Issues Of Genetic Counseling and Testing In Ibdmentioning

confidence: 99%

The Complexity and Challenges of Genetic Counseling and Testing for Inflammatory Bowel Disease

Cummings

Rubin

2006

Journal of Genetic Counseling

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“…The National Human Genome Research Institute's Task Force on Genetic Testing 1997 report, "Promoting Safe and Effective Genetic Testing in the United States," recommended that children not be tested for adult-onset genetic conditions unless medical interventions existed that could benefit the children directly. 122 Similarly, a 2001 policy statement by the American Academy of Pediatrics stated that "genetic testing of children and adolescents to predict late-onset disorders is inappropriate when the genetic information has not been shown to reduce morbidity and mortality through interventions initiated in childhood." 123 While the distinction between early-and late-onset diseases may be useful in evaluating genetic testing of children for many conditions, obesity is not so easily categorized.…”

Section: Distinction Between Early and Late Onset Is Frequently Made mentioning

confidence: 99%

Research Issues in Genetic Testing of Adolescents for Obesity

Segal

Sankar

Reed³

2004

Nut. Rev.

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Obesity is often established in adolescence, and advances are being made in identifying its genetic underpinnings. We examine issues related to the eventual likelihood of genetic tests for obesity targeted to adolescents: family involvement; comprehension of the test's meaning; how knowledge of genetic status may affect psychological adaptation; minors' ability to control events; parental/child autonomy; ability to make informed medical decisions; self-esteem; unclear distinctions between early/late onset for this condition; and social stigmatization. The public health arena will be important in educating families about possible future genetic tests for obesity.

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“…Tests conducted purely for research are excluded from the definition, as are tests for somatic (as opposed to heritable) mutations and testing for forensic purposes. 19 risk prior to the onset of a variety of clinical diseases. It is anticipated that the presymptomatic identification of at-risk individuals will permit the implementation of preventative intervention strategies, potentially enabling avoidance of disease entirely.…”

Section: Glossary Of Genetic Termsmentioning

confidence: 99%

“…While this may be considered "genetic testing," the clinical validity and utility such a test provides, particularly for the clinical care of an individual, must be demonstrated. 19,20 The utility of genetic information to predict disease risk is predicated on the identification of genetic polymorphisms that are, in fact, associated with disease risk in a meaningful way. In contrast to the direct relationship between genetic mutations and the occurrence of symptoms in simple genetic diseases, the relationship between genetic polymorphisms and the occurrence of symptoms in complex diseases is much more difficult to validate.…”

Section: Figure 1 General Paradigm For Genetic Medicinementioning

confidence: 99%

Genetic Testing Considerations for Oral Medicine

Hart

Ferrell²

2002

Journal of Dental Education

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The availability and integration of genetic information into our understanding of normal and abnormal growth and development are driving important changes in health care. These changes have fostered the hope that the availability of genetic information will promote a better understanding of disease etiology and permit early, even pre-symptomatic diagnosis and preventative intervention to avoid disease onset. Expectations for this proactive health care approach are fueled by the technological and scientific advances that have fundamentally changed how we perceive human diseases. Among the clinical applications of this information, genetic testing applications are likely to expand significantly and may broadly impact the clinical practice of dentistry. In this changing environment, it is vital that dental care providers, policymakers, and consumers become aware of important issues related to genetic testing and the incorporation of genetic information into the diagnosis and treatment of common diseases that involve the oral cavity. We must also guard against unrealistic expectations and calls for genetic tests that are not valid. To realize the promise of this new molecular genetics, we must understand the possibilities and responsibly incorporate newly emergent technologies into the evolving discipline of dentistry. This paper overviews many of the important issues that need to be considered in the application of genetic testing to oral medicine. Dr. Hart is Associate Professor,Locus: the position in a chromosome of a particular gene or allele.Mutation: a relatively permanent change in hereditary material involving either a physical change in chromosome relations or a molecular change in the nucleotide composition of a sequence that makes up a gene.Polymorphism: a locus in which two or more alleles have gene frequencies greater than 0.01 in a population. When this criterion is not fulfilled, the locus is considered monomorphic. STRP (short tandem repeat polymorphism): a type of genetic variation (polymorphism) in populations that consist of small repeat units (usually two, three, four, or five nucleotide base pairs) that occur in tandem. Also called a microsatellite repeat polymorphism. SNP (single nucleotide polymorphism): polymorphisms that result from variation at a single nucleotide.Variable clinical expression: a trait in which the same genotype may produce phenotypes of varying severity or expression.Allelic heterogeneity: condition in which different alleles at a locus can produce variable expression of a disease.Locus heterogeneity: refers to conditions in which mutations in different genes (loci) can produce the same disease phenotypes.

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Promoting Safe and Effective Genetic Tests in the United States: Work of the Task Force on Genetic Testing

Cited by 101 publications

References 13 publications

The Complexity and Challenges of Genetic Counseling and Testing for Inflammatory Bowel Disease

The Complexity and Challenges of Genetic Counseling and Testing for Inflammatory Bowel Disease

Research Issues in Genetic Testing of Adolescents for Obesity

Genetic Testing Considerations for Oral Medicine

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