scholarly journals Evaluating Web-Based Direct-to-Consumer Genetic Tests for Cancer Susceptibility

2020 ◽  
pp. 161-169
Author(s):  
Madison K. Kilbride ◽  
Angela R. Bradbury
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Web Sites ◽  
Clinical Laboratory ◽  
Cancer Susceptibility ◽  
Molecular Technique ◽  
Genetic Tests ◽  
Comprehensive Overview ◽  
Direct To Consumer ◽  
Informed Decisions

PURPOSE Recent years have seen direct-to-consumer (DTC) genetic testing for cancer susceptibility change dramatically. For one, a new model now dominates the market where tests are advertised to consumers but ordered by physicians. For another, many of today’s tests are distinguished from earlier DTC offerings for cancer susceptibility by their scope and potential clinical significance. This review provides a comprehensive overview of available DTC genetic tests for cancer susceptibility and identifies aspects of the DTC testing process that could affect consumers’ ability to make informed decisions about testing and understand their results. METHODS First, we provide an overview of each DTC genetic test for cancer susceptibility that includes information about cost; who orders it; whether variants of uncertain significance are returned; availability of genetic counseling; intended users; management of variant reclassifications; whether it is characterized as diagnostic, actionable, and clinically valid; molecular technique used; and Clinical Laboratory Improvement Amendments/College of American Pathologists status. Second, we identify six aspects of the testing process that could affect consumers’ ability to make informed decisions about testing and interpret their results: How companies use certain terms (eg, medical grade or clinical grade); how companies use consumers’ health information during the ordering process; the extent of genetic counseling provided by companies; companies’ procedures for returning results; the role of company-provided ordering physicians; and companies’ procedures for communicating variant reclassifications. RESULTS On the basis of our review of companies’ Web sites, we believe that consumers would benefit from more information about these aspects of testing. CONCLUSION Providing this information would help consumers make informed decisions about whether to use a particular DTC genetic testing service and, should they choose to pursue testing, understand the implications and limitations of their results.

scholarly journals Knowledge and attitude toward genetic diseases and genetic tests among pre-marriage individuals: A cross-sectional study in northern Iran

2019 ◽  
Author(s):  
Mohammad Bagher Hashemi-Soteh ◽  
Ali Vali Nejad ◽  
Golamreza Ataei ◽  
Dariush Ghasemi ◽  
Rita Siamy
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Genetic Diseases ◽  
Cross Sectional Study ◽  
Or Education ◽  
Genetic Tests ◽  
Northern Iran ◽  
Cross Sectional ◽  
Hereditary Disorders ◽  
Knowledge And Attitude

Background: Genetic testing has been widely introduced for many hereditary disorders. While the attitudes towards these facilities have been evaluated in many countries, there are only a few reports on the knowledge of and the orientation among Iranians. Objective: The current study assesses the attitudes and knowledge of pre-marriage individuals toward the availability and use of genetic tests. Materials and Methods: A comprehensive questionnaire was distributed among 408 marrying individuals. The questions addressed the demographic characteristics along the registration of participant’s knowledge, education, and attitude toward genetic testing. The individuals were divided into three groups based on their knowledge: 1) Scored above 80 to 100 were defined as “good” 2) 60 to 80 as “average” 3) less than 60 as “poor” knowledge. Result: Most participants (86%) believed consanguineous marriages increase the risk of genetic diseases; 82.3% knew that thalassemia is a type of genetic disease, only 33.3% could distinguish prenatal diagnosis (PND) from other laboratory tests. The relationship between the participants’ knowledge and their level of education was significant (r = 0.78, p < 0.001), age (r =–0.16, p < 0.01), and urbanity (p < 0.01). A prominent relationship was observed between the knowledge (r = 0.64, p < 0.001) or education (r = 0.62, p < 0.001) and people’s desire to use the genetic tests before the wedding ceremony. No significant correlations were found between the participant’s attitude and their ages/urbanity. Most of the individuals agreed to arrange a genetic counseling before marriage (0.94%). Conclusion: This study revealed that most individuals were interested in using genetic counseling services and genetic tests before marriage.

Invasive Prenatal Diagnosis

2020 ◽  
Author(s):  
Kimberly Zayhowski
Keyword(s):  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Genetic Testing ◽  
Prenatal Care ◽  
Chorionic Villus ◽  
Prenatal Testing ◽  
Chorionic Villus Sampling ◽  
Genetic Tests ◽  
Genetic Technologies ◽  
Invasive Techniques

Despite recent advances in genetic technologies that are making invasive prenatal diagnosis less common, amniocentesis and chorionic villus sampling (CVS) remain an integral part of prenatal care. A multitude of tests, including a variety of genetic tests, can be performed using samples collected from either procedure. Although invasive testing has limitations, many genetic conditions can only be diagnosed through invasive techniques during pregnancy. Invasive testing continues to assist patients and providers in making informed decisions regarding the care of pregnancies. This review details amniocentesis and chorionic villus sampling with a focus on genetic testing, describing why the tests are performed, the way in which they are performed, and the associated limitations and complications of the procedures.  This review 5 figures, 3 tables, and 26 references. Keywords: prenatal diagnosis, amniocentesis, chorionic villus sampling, genetic testing, genetic counseling, invasive prenatal testing, pregnancy, aneuploidy

Direct-to-Consumer Genetic Testing

2012 ◽  
Vol 5 (1) ◽  
pp. 35-67 ◽  
Author(s):  
Richard A. Stein
Keyword(s):  
Health Care ◽  
Genetic Testing ◽  
Health Care Providers ◽  
Double Helix ◽  
Health Care Facilities ◽  
Past Century ◽  
Care Providers ◽  
Genetic Tests ◽  
Direct To Consumer ◽  
Dna Double Helix

Genetics has fascinated societies since ancient times, and references to traits or behaviors that appear to be shared or different among related individuals have permeated legends, literature, and popular culture. Biomedical advances from the past century, and particularly the discovery of the DNA double helix, the increasing numbers of links that were established between mutations and medical conditions or phenotypes, and technological advances that facilitated the sequencing of the human genome, catalyzed the development of genetic testing. Genetic tests were initially performed in health care facilities, interpreted by health care providers, and included the availability of counseling. Recent years have seen an increased availability of genetic tests that are offered by companies directly to consumers, a phenomenon that became known as direct-to-consumer genetic testing. Tests offered in this setting range from the ones that are also provided in health care establishments to tests known as ‘recreational genomics,’ and consumers directly receive the test results. In addition, testing in this context often does not involve the availability of counseling and, when this is provided, it frequently occurs on-line or over the phone. As a field situated at the interface between biotechnology, biomedical research, and social sciences, direct-to-consumer genetic testing opens multiple challenges that can be appropriately addressed only by developing a complex, inter-disciplinary framework.

scholarly journals Utility of RNA Sequencing Analysis in the Context of Genetic Testing

2020 ◽  
Vol 8 (4) ◽  
pp. 140-146
Author(s):  
Jackie Tahiliani ◽  
Jeanne Leisk ◽  
Kerry Aradhya ◽  
Karen Ouyang ◽  
Swaroop Aradhya ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Rna Sequencing ◽  
Clinical Laboratory ◽  
Sequencing Analysis ◽  
Sample Type ◽  
Clinical Genetic ◽  
Clinical Genetic Testing ◽  
Rna Analysis ◽  
Uncertain Significance

Abstract Purpose of Review RNA analysis is beginning to be integrated into clinical laboratory genomics, and a review of its current uses and limitations is warranted. Here, we summarize the scope and utility of RNA analysis in the context of clinical genetic testing, including considerations for genetic counseling. Recent Findings RNA analysis is a powerful approach for interpreting some variants of uncertain significance, for analyzing splicing alterations, for providing additional functional evidence for sequence and structural variants, and for discovering novel variants. However, a review of RNA sequencing methods has noted variability in both laboratory processes and findings. Genetic counseling related to RNA analysis has to take into account nonstandardized laboratory processes, sample-type limitations, and differences in variant-interpretation outcomes. Summary RNA analysis is an important complement to DNA testing, although limitations still exist. Maximizing the utility of RNA analysis will require appropriate patient referrals and standardization of laboratory processes as the practice continues to expand the ability to identify and resolve molecular diagnoses.

“Better Not to Know?”: Justifiable Limits on the Right to Information in the Realm of dtc Genetic Testing. An Analysis of the European and Spanish Legal Framework

2017 ◽  
Vol 24 (2) ◽  
pp. 175-197 ◽  
Author(s):  
Juan María Martínez Otero
Keyword(s):  
Public Health ◽  
Genetic Testing ◽  
Healthcare Professional ◽  
Present Article ◽  
Legal Framework ◽  
Genetic Tests ◽  
Direct To Consumer ◽  
Legal Restrictions ◽  
Right To Information ◽  
The Right

The rapid advance of genetics increases the availability in the market of different genetic tests, which can be acquired directly by consumers without the intermediation of a healthcare professional. Both the European and the Spanish legal framework have restricted the access to these direct-to-consumer (dtc) genetic tests on the grounds of different reasons, such as the protection of consumers or the preservation of public health. The present article discusses these legal restrictions under the light of the right to information.

scholarly journals Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report

2019 ◽  
Vol 56 (6) ◽  
pp. 347-357 ◽  
Author(s):  
Amanda B Spurdle ◽  
Stephanie Greville-Heygate ◽  
Antonis C Antoniou ◽  
Melissa Brown ◽  
Leslie Burke ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Genetic Variants ◽  
Cancer Susceptibility ◽  
Cancer Genetics ◽  
Rapid Expansion ◽  
Monogenic Disease ◽  
Common Disease ◽  
Variant Interpretation ◽  
Genetic Tests ◽  
Cancer Susceptibility Genes

The vocabulary currently used to describe genetic variants and their consequences reflects many years of studying and discovering monogenic disease with high penetrance. With the recent rapid expansion of genetic testing brought about by wide availability of high-throughput massively parallel sequencing platforms, accurate variant interpretation has become a major issue. The vocabulary used to describe single genetic variants in silico, in vitro, in vivo and as a contributor to human disease uses terms in common, but the meaning is not necessarily shared across all these contexts. In the setting of cancer genetic tests, the added dimension of using data from genetic sequencing of tumour DNA to direct treatment is an additional source of confusion to those who are not experienced in cancer genetics. The language used to describe variants identified in cancer susceptibility genetic testing typically still reflects an outdated paradigm of Mendelian inheritance with dichotomous outcomes. Cancer is a common disease with complex genetic architecture; an improved lexicon is required to better communicate among scientists, clinicians and patients, the risks and implications of genetic variants detected. This review arises from a recognition of, and discussion about, inconsistencies in vocabulary usage by members of the ENIGMA international multidisciplinary consortium focused on variant classification in breast-ovarian cancer susceptibility genes. It sets out the vocabulary commonly used in genetic variant interpretation and reporting, and suggests a framework for a common vocabulary that may facilitate understanding and clarity in clinical reporting of germline genetic tests for cancer susceptibility.

Direct-to-consumer Genetic Testing: Changes in the eu Regulatory Landscape

2015 ◽  
Vol 22 (5) ◽  
pp. 463-480 ◽  
Author(s):  
Santa Slokenberga
Keyword(s):  
Genetic Testing ◽  
Transition State ◽  
The Internet ◽  
Genetic Tests ◽  
Direct To Consumer ◽  
Performance Requirements ◽  
Major Shift ◽  
Regulatory Landscape ◽  
The Eu

Rapid advances in genomics and technology have rendered genetic testing services easily accessible to consumers over the Internet in the form of direct-to-consumer genetic testing. In the eu, the ivd Directive has been animadverted for its inability to tackle the challenges direct-to-consumer genetic testing has posed. Currently, the eu legislation is in a transition state. It is thus, timely to assess, to what extent the proposed ivd Regulation is intended to address the performance requirements and utility of direct-to-consumer genetic tests, which are made available to consumers within the eu over the Internet, and discuss the developments vis-à-vis the ivd Directive. To compare with the ivd Directive, the ivd Regulation presents a major shift in how direct-to-consumer genetic testing is treated in the eu. It remains unclear, whether and how the eu requirements can be applied beyond the eu market.

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