The challenge of implementing genetic tests with clinical utility while avoiding unsound applications

Cornel, Martina C.; El, Carla G. van; Borry, Pascal

doi:10.1007/s12687-012-0121-1

Cited by 24 publications

(12 citation statements)

References 23 publications

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“…While carrier testing for a range of recessive conditions offers the chance to determine the genetic risk (if one exists) to future children, as previously stated, it is important that the test cover those mutations of relevance to the population (Cornel et al 2014). The consumer therefore needs to ensure that the mutations relevant to his or her ethnicity are tested.…”

Section: Pre-conceptual or Prenatal Carrier Testsmentioning

confidence: 99%

“…The combination of different tests varies according to the company, but the panel frequently comprises tests for gene mutations for monogenic disorders, carrier tests for autosomal recessive conditions, tests for gene variants that could indicate susceptibility to a number of common diseases (Cornel et al 2014), pharmacogenomic tests (Chua and Kennedy 2012) and sometimes tests that indicate specific physical characteristics, such as ear lobe thickness (Samuel et al 2010). Of these, the tests that are of most relevance in the reproductive context are carrier tests that may identify the potential risk of any offspring having an autosomal recessive condition.…”

Section: Introductionmentioning

confidence: 99%

“…The first is that although some mutations for single gene disorders may be included in the test, the company may not include all potential mutations (Cornel et al 2014), or even those that …”

Section: Introductionmentioning

confidence: 99%

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Direct to consumer testing in reproductive contexts – should health professionals be concerned?

Skirton

2015

Life Sci Soc Policy

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Direct to consumer genetic testing offered via the Internet has been available for over a decade. Initially most tests of this type were offered without the input of the consumer's own health professional. Ethical and practical concerns have been a raised over the use of such tests: these include fulfilling the requirement for informed consent, utility of results for health care management and the potential burden placed upon health services by people who have taken tests. These tests now have an application in reproductive healthcare. The advent of non-invasive prenatal testing has facilitated the genetic testing of the fetus using only a maternal blood sample. However, companies offering such tests, for example for aneuploidy, appear to be doing so based on a referral from the mother's health professional. Preconception or prenatal carrier testing for a range of autosomal recessive conditions can be purchased without the input of a health professional who knows the prospective parents. However, unless the appropriate mutations for the specific population are included in the test, results may create false reassurance. Paternity testing without the consent of the putative father is also available via the Internet, as are tests to ascertain the sex of the fetus, which may be used to select children of a specific gender. Direct-to-consumer tests may support prospective parents to identify genetic risk to their future children, however, it is important that they are aware of the possible limitations, as well as advantages, of these tests. National regulation may not prove effective in ensuring the safety of all individuals involved, therefore international pressure to ensure companies conform to Codes of Practice may be needed, especially in relation to tests that could influence reproductive decisions. However, health professionals have a duty to ensure they are sufficiently knowledgeable to enable them to guide patients appropriately.

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Section: Pre-conceptual or Prenatal Carrier Testsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Direct to consumer testing in reproductive contexts – should health professionals be concerned?

Skirton

2015

Life Sci Soc Policy

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“…Dr. Cornel's comprehensive and informative presentation can be followed up in her article, coauthored by Carla van El and Pascal Borry, in this issue (Cornel et al 2012).…”

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confidence: 98%

Predictive genetic testing, risk communication, and risk perception: an international expert meeting in Berlin, Germany

Achilles

Tönnies

2013

J Community Genet

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“…The situation gets even more complex in genetic testing: in Germany for example, all genetic tests are covered by the Genetic Diagnostics Act (GenDG) [2]. The background of this legislation is the idea of genetic data exceptionalism and regulates in particular inaccurate promises, the discrimination of persons according to their genotype and an elaborate data protection for the results of genetic analyses [5]. In the US, strict regulations are in place for medical genetic tests, however, the FDA allows genetic lifestyle tests in general.…”

mentioning

confidence: 99%

Improvement in clinical laboratory services: approaches to adding value

2017

Clinical Chemistry and Laboratory Medicine (CCLM)

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Laboratory is testing is necessary at several time points during a patient's disease as well as for prophylaxis, risk assessment, and for therapy monitoring of chronic diseases. In most cases, this testing will take place by sending the patient's specimen from the attending physician to the medical laboratory. However, with the advent of point of care testing as well as with the self-empowerment of patients [1] and the availability of some disruptive technologies, a certain competition has arisen for the analysis of patient specimen. This new situation is rather challenging for the patients and the medical laboratories. First, the definition of healthcare and the legal regulation which are necessary to protect patients' integrity -despite being universal -are rather complex and even differ between countries. Most of the novel techniques in DTC use internet technologies in which country borders become invisible. Related to the world-wide marketplace of laboratory tests are attempts to blur the difference between laboratory testing for healthcare and for lifestyle purposes. The first being highly limited and regulated, the latter with very little regulation to allow free trade and the rules of the marketplace. In particular in genetic testing, in some countries such as Austria, Switzerland and Germany very tight laws are in place to protect the patient and his relatives [2]. If samples are sent to other countries and particular if treated as lifestyle tests, the impetus of these laws can be easily circumvented. A challenge in laboratory testing (in vitro testing) is the impossibility of the patient to judge the quality of the Clinical Pathology service obtained: the direct personal contact will occur in exceptional situations only and the patient must rely on the intrinsic hurdles such as self-declaration, legal regulation and supervision by the authorities and often marketing buzz. Legal regulations in particular for in in vitro diagnostic differ substantially between health systems: E.g., in the US the FDA approves test kits for use in healthcare and CLIA approves medical laboratories individually on a regular basis. In Germany, the focus is on structural quality of medical laboratories and on performance quality (internal quality control and external quality assessment) which is regulated by the RiliBÄK (Guidelines of the National Physicians Chamber). RiliBÄK mandates in detail the quality management system as well as the scope and the minimum frequency of internal quality control and external quality assessment [3]. Test kits are regulated by EU legislation similar to FDA approval (called "CE-marking"). However, for laboratory testing outside of healthcare (such as for lifestyle testing or for DTC), there are essential no quality qualifications or formal approval to be met in Germany while in the US, these laboratories in most cases will need CLIA approval. Particular targets of novel testing formats are healthy subjects, obviously to access new markets and generate profits. Laboratory testing is offered to th...

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The challenge of implementing genetic tests with clinical utility while avoiding unsound applications

Abstract: Genetics and genomics have developed fast in the last decade, but have not revolutionized medicine, as some had expected. While translation of research findings to public health applications is lagging behind, direct-to-consumer

Cited by 24 publications

References 23 publications

Direct to consumer testing in reproductive contexts – should health professionals be concerned?

Direct to consumer testing in reproductive contexts – should health professionals be concerned?

Predictive genetic testing, risk communication, and risk perception: an international expert meeting in Berlin, Germany

Improvement in clinical laboratory services: approaches to adding value

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