Direct-to-consumer genetic testing: where and how does genetic counseling fit?

Direct-to-consumer genetic testing for disease ranges from well-validated diagnostic and predictive tests to ‘research’ results conferring increased risks. While being targeted at public curious about their health, they are also marketed for use in reproductive decision-making or management of disease. By virtue of being ‘direct-to-consumer’ much of this testing bypasses traditional healthcare systems. We argue that direct-to-consumer genetic testing companies should make genetic counseling available, pre- as well as post-test. While we do not advocate that mandatory genetic counseling should gate-keep access to direct-to-consumer genetic testing, if the testing process has the potential to cause psychological distress, then companies have a responsibility to provide support and should not rely on traditional healthcare systems to pick up the pieces

Counseling Customers: Emerging Roles for Genetic Counselors in the Direct-to-Consumer Genetic Testing Market

Individuals now have access to an increasing number of internet resources offering personal genomics services. As the direct-to-consumer genetic testing (DTC GT) industry expands, critics have called for pre- and post-test genetic counseling to be included with the product. Several genetic testing companies offer genetic counseling. There has been no examination to date of this service provision, whether it meets critics’ concerns and implications it may have for the genetic counseling profession. Considering the increasing relevance of genetics in healthcare, the complexity of genetic information provided by DTC GT, the mediating role of the internet in counseling, and potential conflicts of interest, this is a topic which deserves further attention. In this paper we offer a discourse analysis of ways in which genetic counseling is represented on DTC GT websites, blogs and other online material. This analysis identified four types of genetic counseling represented on the websites: the integrated counseling product; discretionary counseling; independent counseling; and product advice. Genetic counselors are represented as having the following roles: genetics educator; mediator; lifestyle advisor; risk interpreter; and entrepreneur. We conclude that genetic counseling as represented on DTC GT websites demonstrates shifting professional roles and forms of expertise in genetic counseling. Genetic counselors are also playing an important part in how the genetic testing market is taking shape. Our analysis offers important and timely insights into recent developments in the genetic counseling profession, which have relevance for practitioners, researchers and policy makers concerned with the evolving field of personal genomics. Keywords Genetic counseling Internet Direct-to-consumer genetic testing Discourse analysis

Ethical qualms about genetic prognosis

The debate about direct-to-consumer genetic testing has centred on whether consumers are the best judges of their own clinical care. Inthis article, I also examine whether the science of personalized medicine is really as advanced as its proponents claim, and how the availability of genetic markers affects decisions on who gets and does not get medical treatment

What's Advertising Content Worth? Evidence from a Consumer Credit Marketing Field Experiment

Firms spend billions of dollars each year advertising consumer products in order to influence demand. Much of these outlays are on the creative design of advertising content. Creative content often uses nuances of presentation and framing that have large effects on consumer decision making in laboratory studies. But there is little field evidence on the effect of advertising content as it compares in magnitude to the effect of price. We analyze a direct mail field experiment in South Africa implemented by a consumer lender that randomized creative content and loan price simultaneously. We find that content has significant effects on demand. There is also some evidence that the magnitude of content sensitivity is large relative to price sensitivity. However, it was difficult to predict which particular types of content would significantly impact demand. This fits with a central premise of psychology— context matters— and highlights the importance of testing the robustness of laboratory findings in the field.economics of advertising, economics & psychology, behavioral, economics, cues, microfinance

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

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

Is there a right time to know? The right not to know and genetic testing in children

The increasing implementation of next-generation sequencing technologies in the clinical context and the expanding commercial offer of genetic tests directly-toconsumers has increased the availability of previously inaccessible genetic information. A particular concern in both situations is how the volume of novel information will affect the processing of genetic and genomic information from minors. For minors, it is argued that in the provision of genetic testing, their "right not to know" should be respected as much as possible. Testing a minor early in life eliminates the possibility for the minor to make use of his or her "right not to know." The article discusses the theoretical underpinnings of the right not know, analyzes reasons why various direct-to-consumer companies process samples from minors, and discusses the right not to know in relation to common complex disorders in a pediatric population

An epidemiological perspective on the future of direct-to-consumer personal genome testing

Personal genome testing is offered via the internet directly to consumers. Most tests that are currently offered use data from genome-wide scans to predict risks for multiple common diseases and traits. The utility of these tests is limited, predominantly because they lack predictive ability and clear benefits for disease prevention that are specific for genetic risk groups. In the near future, personal genome tests will likely be based on whole genome sequencing, but will these technological advances increase the utility of personal genome testing? Whole genome sequencing theoretically provides information about the risks of both monogenic and complex diseases, but the practical utility remains to be demonstrated. The utility of testing depends on the predictive ability of the test, the likelihood of actionable test results, and the options available for the reduction of risks. For monogenic diseases, the likelihood of known mutations will be extremely low in the general population and it will be a challenge to recognize new causal variants among all rare variants that are found using sequencing. For complex diseases, the predictive ability of genetic tests will be mainly restricted by the heritability of the disease, but also by the genetic complexity of the disease etiology, which determines the extent to which the heritability can be understood. Given that numerous genetic and non-genetic risk factors interact in the causation of complex diseases, the predictive ability of genetic models will likely remain modest. Personal genome testing will have minimal benefits for individual consumers unless major breakthroughs are made in the near future

Survey of Italian pediatricians on awareness, experiences and beliefs regarding direct-to-consumer genetic testing in minors

Background: Our study wanted to assess Italian pediatricians’ awareness, experience and beliefs regarding directto- consumer (DTC) genetic tests (GT) in minors, with a focus on those for predisposition to complex disease, lyfestyle, athletic ability and other inborn talents. Methods: A 28-item questionnaire was administered through the SurveyMonkey® web platform to the 9,086 members of the Italian Society of Pediatrics for which a valid email address was available. The survey was opened from April through November 2017. Statistical analyses were performed using the Graphpad software package. Results: 36.2% of the 442 respondents were aware of DTC-GT, but only 23.1% of them felt adequately prepared to meet families’ information needs. The first three sources of knowledge were the Internet (20.98%), magazines/ newspapers (16.78%) and TV/Radio (14.33%), while companies’ direct marketing activity influenced knowledge only in 2.45% of the cases. Only 16.4% of the aware respondents had been already approached for advice. More than 95% of the pediatricians who were aware would not advise DTC-GT for lifestyle, athletic performance or other inborn skills. 69.2% was unfavourable to susceptibility tests for complex diseases. Most of them expressed an interest in learning more and indicated as preferred sources of information public policies issued by professional societies. Conclusion: The low awareness and experience and the vendors’ tiny contribution to knowledge suggest a still limited penetration of DTC-GT companies in Italy. A great interest in learning more was found. Scientific societies are best positioned to support health professionals in this educational goal thanks to their role of trusted sources of information and guidance

The Past, Present, and Future of Direct-to-Consumer Genetic Testing: What we have Learned and Why Increased Regulation is Warranted

Almost a decade after the complete sequencing of the human genome, we have seen a proliferation of genetic testing services marketed directly to the consumer and purporting to use genetic information to generate individualized health information. These tests have been subject to only minimal regulation, despite the fact that scientists and policymakers have serious concerns about both the clinical effectiveness of the tests and the safety of releasing certain types of health information to the public without the supervision of a health care professional. Proponents of minimal regulation argue that the tests allow for patient autonomy and privacy of genetic information, while unburdened marketing of the tests encourages increased development and innovation of testing services. This article explores in depth both the benefits of direct to consumer genetic testing and the concerns arising from such tests, and concludes that particular safety and accuracy concerns warrant increased oversight of these tests. The article then goes on to evaluate the current regulatory framework under which direct to consumer genetic testing services operate, and finds that it is insufficient in light of these concerns. The article concludes that recent steps by the Food and Drug Administration (FDA) to exercise increased regulation over direct to consumer genetic tests are warranted and will provide the optimal amount of regulation for these tests

The genome incorporated: constructing biodigital identity

The Genome Incorporated examines the proliferation of human genomics across contemporary media cultures. It explores questions about what it means for a technoscience to thoroughly saturate everyday life, and places the interrogation of the science/media relationship at the heart of this enquiry. The book develops a number of case studies in the mediation and consumption of genomics, including: the emergence of new direct-to-the-consumer bioinformatics companies; the mundane propagation of testing and genetic information through lifestyle television programming; and public and private engagements with art and science institutions and events. Through these novel sites, this book examines the proliferating circuits of production and consumption of genetic information and theorizes this as a process of incorporation. Its wide-ranging case studies ensure its appeal to readers across the social sciences