Genes contain coded information that directs the body to carry out particular tasks. Changes in this information, called mutations, prevent the correct message being issued to the cells and may result in a genetic condition. Once a gene is isolated and its correct sequence defined, it is possible to determine if a person has the correct copy of the gene or the faulty version that may result in a particular genetic condition.
Genetic counselling (see Genetics Fact Sheet 3) is strongly recommended to assist in informed decision-making in this area.
Some will view having testing to see if he or she has a particular faulty gene for a condition that may not develop for some years, as beneficial, although there may not be an effective treatment. Examples of this include having presymptomatic genetic testing for Huntington disease and predictive testing for young-onset forms of Alzheimer disease (see Genetics Fact Sheets 44 & 45). Others may not see such testing as beneficial at all.
It will be important to ensure that access to personal genetic information is only on the basis of informed consent. Such information is likely to be of interest to third parties such as employers and insurance companies. Equal weight should be given to an individual’s right to know, or not to know details of his or her personal genetic information.
The determination of the entire DNA sequence contained in the human genome will not enable geneticists to look at a person’s DNA sequence and predict everything about their appearance, behaviour and other characteristics.
Many genes interact to produce a particular characteristic and the analysis of genes in isolation is not going to provide the whole answer. In addition, while an individual’s genetic make-up makes a considerable contribution to their health, growth and development, appearance and behaviour, environment also plays a major role. This is not just the physical environment such as diet and climate but also education, housing and access to high quality health services.
Finding out this information from genetic testing can free families from the uncertainties of an unexplained illness, may enable the early detection, treatment or prevention of a current or future health problem or may be used to prevent the condition affecting further children in the family.
While these advances can profoundly improve the state of human health, they also raise a number of complex and often controversial ethical, legal and social issues.
Many genetic tests are marketed directly to consumers on the internet and elsewhere. Some companies advertise clinical genetic tests directly to consumers. This raises concern because it leads to instances where customers receive clinically significant test results without appropriate counseling from a health care professional, and are left to interpret complex results on their own. Other companies offer tests and associated merchandise purported to help clients select an optimal diet, stop smoking, or maintain a youthful appearance. These claims lack sufficient scientific support to demonstrate their validity.
the current lack of a clearly defined intervention based upon test results, the unclear confidentiality of testing services, involvement of insurance companies without protection from genetic discrimination, and insufficient understanding of complex genetic information on the part of some genetic counselors and clinicians.
no test should be performed without the involvement of a qualified provider before and after the test, to ensure that reliable, safe, and predictable information is provided more consistently.
, covering unfair or deceptive practices, and false ads for foods, drugs, devices, and services, including claims for genetic tests.
convey accurate information to the public, including expected benefits and potential harms of learning genetic information
Some characteristics, or traits, result from interactions with the environment, others are determined from the genetic material in your chromosomes.
tics about how the individual looks. Each chromosome contains a very complex molecule called DNA. The DNA molecule contains genes, which direct how an organism’s body is built and maintained.
http://newsinhealth.nih.gov/2006/February/docs/01features_01.htmGenes made of DNA and packaged into chromosomes. Genes are the instructions providing all the information for cells to make proteins. Genes determine characteristics of an individual and contribute to one's chances of getting certain disease. Genetic testing is a medical tests that examines genes of an individual to confirm a diagnosis, identify a carriers, or measure the risks of certain diseases. The Human Genome Project advances the development of new genetic testings. Today, more and more genetic testing are available so the emerge of companies offering direct-to-consumer (DTC) genetic testing. DTC genetic testing become cheaper and available to more people. However, the potential benefit of DTC genetic test does not outweigh the risk of this practices.
Gordon Smith, Chairman of Senate Special Committee on DTC tesint, said,
To ensure the safety and quality of genetic tests, the laboratories must have quality control and personnel standards, the tests must be valid and reliable, and test results must be interpret by a healthcare providers
DNA made of gene reside in chromosomes
phenotype: its physical appearance, internal anatomy, physiology, and behavior.
DNA is material that governs inheritance of eye color, hair color, stature, bone density and many other human and animal traits.
The sequence of bases (letters) can code for many properties of the body's cells.
Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. Most of the time, testing is used to find changes that are associated with inherited disorders. \
Before a person has a genetic test, it is important that he or she understands the testing procedure, the benefits and limitations of the test, and the possible consequences of the test results. The process of educating a person about the test and obtaining permission is called informed consent.
marketed directly to consumers via television, print advertisements, or the Internet
provides access to a person’s genetic information without necessarily involving a doctor or insurance company in the process.
collecting a DNA sample at home,
The growing market for direct-to-consumer genetic testing may promote awareness of genetic diseases, allow consumers to take a more proactive role in their health care
have significant risks and limitations. Consumers are vulnerable to being misled by the results of unproven or invalid tests. Without guidance from a healthcare provider, they may make important decisions about treatment or prevention based on inaccurate, incomplete, or misunderstood information about their health. Consumers may also experience an invasion of genetic privacy if testing companies use their genetic information in an unauthorized way.
Genetic testing provides only one piece of information about a person’s health—other genetic and environmental factors, lifestyle choices, and family medical history also affect a person’s risk of developing many disorders. These factors are discussed during a consultation with a doctor or genetic counselor, but in many cases are not addressed by at-home genetic tests. More research is needed to fully understand the benefits and limitations of direct-to-consumer genetic testing.
has been gaining prominence over the past several years
Critics of DTC genetic test- ing have pointed to the risks that consumers will choose testing without adequate context or counseling, will receive tests from laboratories of dubious quality, and will be misled by unproven claims of benefit.
Ensuring adequate information, high-quality laboratories, and accurate claims and interpretation of test results is important for all genetic tests
The range of tests available DTC is broad, from tests for single-gene disorders, such as cystic fibrosis, to tests for predisposition to complex, multifactorial diseases, such as depression and cardiovascular disease. In addition to providing test results DTC, some companies also make recommendations regarding lifestyle changes on the basis of these results, such as changes in diet or use of nutritional supplements.
correlation between the genetic variant and a particular health condition or risk—the so-called clinical validity.
Currently, the federal government exercises limited oversight of the analytic validity of genetic tests and virtually no oversight of their clinical validity.
the complexity of the information that consumers need to understand to make an informed decision, and the lack of provider scrutiny. Consumers are at a significant risk of selecting tests with unproven benefit, of obtaining testing services from laboratories of dubious quality, and of making deci- sions without timely and accurate genetic counseling.
unsupported by scientific evidence.
DTC genetic testing differs from traditional genetic testing in that consumers order tests and receive test results without an independent provider serving as an intermediary.
DTC genetic testing differs from traditional genetic testing in that consumers order tests and receive test results without an independent provider serving as an intermediary.
Federal law prohibits companies from using unfair, deceptive, or fraudulent trade practices,
To ensure the analytic and clinical validity of genetic tests offered DTC and to ensure that claims made about these tests are truthful and not misleading, the relevant agencies of the federal government should take appropriate and targeted regulatory action.
Conclusion
DTC genetic testing is a method of marketing genetic tests to consumers without the involvement of an independent health care provider. Potential benefits of DTC testing include increased consumer awareness of and access to testing. In the current environment, consumers are at risk of harm from DTC testing if testing is performed by laboratories that are not of high quality, if tests lack adequate analytic or clinical validity, if claims made about tests are false or misleading, and if inadequate information and counseling are provided to permit the consumer to make an informed decision about whether testing is appropriate and about what actions to take on the basis of test results.
a proliferation of commercially available genetic tests,
for identifying health-related genes and for non-health-related applications
Traditionally health-related genetic tests have been available only through health care providers, who decide whether a test is needed and interpret test results. However, these tests are increasingly marketed not only to health care providers but also to consumers themselves. Beyond the significant gaps that exist in the general regulation of genetic tests, direct-to-consumer (DTC) genetic testing raises additional concerns.
critics argue that consumers are vulnerable to being misled by advertisements and lack the knowledge to make appropriate decisions about whether to get tested or how to interpret the results. Consumers with little knowledge of genetics might have difficulty distinguishing between tests widely used and accepted by medical professionals (such as those for mutations causing cystic fibrosis), and those whose validity is unproven in the scientific literature (such as those purporting to predict risk of depression or an appropriate skin care regimen). Advertisements may also underemphasize the uncertainty of genetic testing results, or exaggerate the risk and severity of a condition for which testing is available, thus increasing consumer anxiety and promoting unnecessary testing.
Taking tests without a provider’s supervision increases the likelihood of harmful outcomes to consumers,
The Food and Drug Administration (FDA) has authority to regulate claims made by products under its jurisdiction. However, currently, FDA regulates only those genetic tests that are sold as “test kits” and used by laboratories to perform testing. FDA considers test kits to be medical devices and requires that they undergo premarket review before they can be made commercially available. Since the vast majority of genetic tests are instead developed by the laboratory, neither tests nor claims made about them is subject to FDA oversight.
Without a system in which an upfront expert evaluation can be made with respect to the validity of genetic tests, it will be difficult if not impossible to make rational decisions
regulations address personnel qualifications, quality control procedures, and proficiency testing programs
DTC testing allows consumers to order through the Internet, phone, or mail a broad range of health and non-health related tests directly from laboratories
Analytical validity refers to how well the test predicts the presence or absence of a particular gene or genetic change. In other words, can the test accurately detect whether a specific genetic variant is present or absent. Clinical validity refers to how well the genetic variant being analyzed is related to the presence, absence, or risk of a specific disease. Clinical utility refers to whether the test can provide information about diagnosis, treatment, management, or prevention of a disease that will be helpful to a consumer.
All laboratories that perform health-related testing, including genetic testing, are subject to federal regulatory standards called the Clinical Laboratory Improvement Amendments (CLIA) . CLIA standards cover how tests are performed, the qualifications of laboratory personnel, and quality control and testing procedures for each laboratory. By controlling the quality of laboratory practices, CLIA standards are designed to ensure the analytical validity of genetic tests.
CLIA standards do not address the clinical validity or clinical utility of genetic tests. The Food and Drug Administration (FDA) requires information about clinical validity for some genetic tests.
genetic testing industry’s expansion has outgrown the regulatory framework within which it operate
enact regulatory policies that address these vital needs. We must also ensure those policies encourage the development of genetic tests, genetic technologies, and the industry that produces these products.
(FDA) assesses a device’s accuracy, clinical sensitivity, and specificity. Most genetic tests are not packaged as test kits. Instead, genetic tests are typically performed by laboratories are not regulated by the FDA
Since the launch of the Human Genome Project, genetic testing has been adopted increasingly into standard practice for diagnosing and managing disease, predicting the risk of future disease, and informing decisions about life planning and behavior change. Today, genetic tests use combinations of biochemical, cytogenetic, and molecular methods to analyze deoxyribonucleic acid (DNA), ribonucleic acid (RNA), chromosomes, proteins, and selected metabolites. Advances in genetics research are enabling improved prevention, treatment, and disease management for common chronic conditions such as cancer, heart disease, and diabetes.
As genetic testing technology is integrated into health care, increasingly detailed information about individual and population genetic variations becomes available to patients and providers. More and more, health professionals are turning to genetic testing to assess the risk of and specifically diagnose disease in individuals, families, and populations and then using this information to guide health care decisions. However, availability of this information requires significant support for efforts to understand its validity, interpretation, and utility in clinical and personal decisionmaking. Scientific and technological advances in genetic testing present certain challenges to existing frameworks for regulation and oversight. It is critical to anticipate and adapt to the impacts of these advances on individual health care and public health.
The significance of the information from genetic tests, the expanded use of genetic testing in clinical practice and public health, and the pace and extent of technological change in the ways testing is performed have prompted efforts to examine the current systems of oversight and regulation of genetic tests and test results.
Advances in the technology and application of genetic testing have confirmed and widened some gaps and ambiguities that exist in current systems of oversight. The prevalence of genetic testing in health care today has highlighted the need to examine the regulatory framework governing a variety of test uses and testing procedures. Analytical validity refers to a test’s ability to measure the analyte or genotype of interest accurately and reliably; clinical validity refers to a test’s ability to detect or predict the associated disorder Prospective data of a test’s clinical validity, however, are often unavailable or incomplete for years after a test is developed, especially for predictive or presymptomatic tests. As such, numerous challenges remain for the demonstration of clinical validity, such as the collection of postmarket data and the sharing of information among laboratories.
The increasing prevalence of genetic testing has led to a rise in direct-to-consumer (DTC) advertising of genetic tests. In 2006 the Federal Trade Commission (FTC), in conjunction with FDA and CDC, issued an alert warning consumers to be wary of claims made by at-home genetic tests.13 There also appears to be a lack of patient guidance for interpreting information from all forms of genetic testing, not just DTC tests
There are many challenges to effective oversight of genetic testing. Analytical and clinical validity must be established for the increasing number of new technologies to be of practical use to clinicians and patients, highlighting the need for information exchange, premarket and postmarket data, and reference materials to verify newly developed assays. Clarification and improved coordination of FDA, CLIA, and State-based regulations over quality assurance and PT will be necessary to reduce ambiguity and increase consistency over standards for laboratory compliance. The small body of existing research on clinical utility of genetic testing highlights a critical lack of information on how genetic test information is used to influence clinical decisionmaking and how it affects health outcomes. A related shortcoming is the dearth of educational programs for clinicians, practitioners, and health care professionals on how to deliver and interpret genetic information for patients. The translation of genetic tests into clinical practice will rely heavily on preanalytical and postanalytical clinical decision support and research into the impact of genetic information on health care delivery, outcomes, and costs.
optimize the time and cost
HHS should conduct public health surveillance to assess health outcomes (or appropriate surrogate outcomes), practice measures (including appropriate utilization), and the public health impact of genetic testing.
genetic testing is increasingly used in targeted treatment selection, identification and quantification of treatment risks, monitoring of treatment effectiveness and prognosis, and personalized disease management.
Advances in genetics research are enabling improved prevention, treatment, and disease management for common chronic conditions such as cancer, heart disease, and diabetes. Drawing from some of these advances, pharmacogenomic testing is a relatively new form of genetic testing that is attracting great attention. Pharmacogenomics attempts to uncover the genetic basis for individual differences in drug toxicity and efficacy to optimize drug design and drug therapy. Customized treatment choices and regimens can mean better responsiveness, reduced side effects, and more cost-effective drug development and use of drugs.
in parallel with advances in science and the growth of health uses of genetic tests, various groups have called for increased Federal oversight of genetic testing and testing laboratories
SACGHS is well aware of concerns that stigmatization and psychological harms may increase as more people learn about their risks for late-onset diseases, particularly those for which there are no effective treatments.
predominately used to detect heritable or somatic mutations, genotypes, or phenotypes related to disease and health.
Genetic tests can provide diagnostic and predictive information about disorders that have no treatment or preventive measures.28 This aspect raises questions about the clinical utility of such tests and their benefit to patients, as well as concerns about patients’ psychological well-being.
New genetic testing technologies are rapidly emerging. in development promises future applicability to more than 60 percent of the population
Currently, there are no Federal requirements that laboratories establish or verify the clinical validity of each test offered.
the potential risks of positive test results include possible social, psychological, and economic harms, including altered self-image, impact on family relationships, stigmatization, exclusion from health insurance and employment, and identification of risk status in other family members
The potential value of a genetic test is realized only when it provides a meaningful benefit to patients, families, or society.
Within the field of genetics, clinical utility represents a balance between health-related benefits and the harms that can ensue from a genetic test.
Genetic tests without proven clinical utility could divert clinical management away from effective strategies to those that are uncertain (or even harmful)
Genome-scale screening tests may lead to a phenomenon in which multiple abnormal genomic findings are discovered, many of which have unknown clinical significance.
Inadequate information for the clinical utility of particular genetic tests, particularly those offered directly to consumers (such as an analysis of variants in the TCF7L2 gene associated with diabetes), coupled with the nuanced interpretation of these tests can be confusing and may lead to uninformed decisions that are harmful. For example, people who test negative for TCF7L2 variants may falsely believe that they are not at risk for diabetes rather than having at least the same risk as the general population. This false sense of security could lead to poor health decisions related to diet and weight control.
The science of genetics and genomics is providing important knowledge and tools that promise to advance health care in the United States and the rest of the world. Genetic tests, like other medical tests, are used to assist clinicians and patients in making informed decisions about patient health.
The interpretation of genetic test results almost always requires information beyond the genotype, enzymatic activity, or cytogenetic result. While this is true for most medical tests, genetic test interpretation often requires information that is uniquely available from the laboratory, which the clinician is unlikely to have or be able to understand. For instance, laboratories performing DNA-based CF testing will report varying numbers of mutations depending on the methodology offered, which may result in differing detection rates.533 This variation is particularly problematic when no mutation is found, and a patient’s residual risk for having an undetected mutation must ultimately be determined and communicated. Other factors that can affect detection rates include race/ethnicity, family history, and clinical information.
it is important for laboratories to know the race/ethnicity of the patient when selecting the test to run in order to interpret the results appropriately. It is conceivable that the absence of such information might lead to harm through misinterpretation. A limited number of studies have been published describing the extent to which laboratories request or collect such information to inform the development of the test result report.
pharmacogenetic testing could be considered of even higher complexity due to the multitude of factors considered when applying test results and determining how a particular patient will metabolize a specific drug.
The ability of health care professionals to interpret genetic test results accurately and communicate this information effectively to families and other health care providers is as important as determining and communicating information about the appropriate genetic testing.
It is not surprising that many studies have revealed that genetics professionals are better equipped than primary care providers and other specialists to order appropriate genetic tests and provide genetic counseling before and after testing. Massachusetts State law requires that all genetic testing be accompanied by a statement that the person was informed about the availability of genetic counseling and was provided with written information identifying a genetic counselor or a clinical or medical geneticist from whom the person might obtain counseling.
Genetics professionals are uniquely qualified by their training and board certification or credentialing to determine the appropriate genetic testing and communicate options to the family or health care provider prior to genetic testing. Their training also allows them to interpret the genetic test results accurately and provide information to the families and health care providers tailored to the recipient. All genetics specialties include competencies to determine appropriate testing, interpret test results accurately, and convey information appropriately to the intended recipient.
given the complexity of genetic testing, the laboratory must play a role in interpreting and effectively communicating the test result to the ordering physician.
Patients and families need accurate, accessible, and complete information about genetic tests in order to make informed health care decisions.
Background and effect of condition • Treatment and management • Heredity and risk • Patient rights
• Type of test • Accuracy of test • What happens after the test • Shared decisionmaking • Psychosocial consequences • Consequences for family members • Benefits and risks • Date and sources • Additional support and information
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