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What should you know about your consumer genetic testing data? Further reading for 6 Apr 2017 issue

In 10 seconds? Any genetic test, even just those that supposedly check whether you're a Viking or not, can reveal your health risks – and your biological information could later be used by third parties in a range of ways without your consent.

Not convinced? More than a hundred studies have proposed associations between genetic markers of ancestry and a wide variety of disease risks, such as coronary heart disease. (read more)

Surely consumers aren't just giving away their data? In a 2012 study of 86 genetic test companies, only 28 disclosed how the customer's samples and results would be stored and used after the test was completed. A more recent study conducted in 2015 reported similar concerns. (read more)

So what can companies do with your data?

Amass private repositories for drug discovery – Genetics testing company 23andme has collected biological samples from over a million people since 2006; now they're turning around to charge researchers and pharmaceuticals for access to this information. (read more)

Identify victims in disasters – DNA from biobanks has been analysed for victim identification in events including the 9/11 World Trade Centre attack, the 2004 Indian Ocean tsunami, and Hurricane Katrina in 2005. (read more)

Perhaps affect your health insurance – A US bill named the "Preserving Employee Wellness Programs Act" (H.R.1313) passed its first round of voting in Congress on 8 March 2017, which if enacted would allow companies to impose fines on employees who refuse to reveal their and their families' genetic test results. (read more)

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Health and genetic ancestry testing: time to bridge the gap.

Abstract: It is becoming increasingly difficult to keep information about genetic ancestry separate from information about health, and consumers of genetic ancestry tests are becoming more aware of the potential health risks associated with particular ancestral lineages. Because some of the proposed associations have received little attention from oversight agencies and professional genetic associations, scientific developments are currently outpacing governance regimes for consumer genetic testing.We highlight the recent and unremarked upon emergence of biomedical studies linking markers of genetic ancestry to disease risks, and show that this body of scientific research is becoming part of public discourse connecting ancestry and health. For instance, data on genome-wide ancestry informative markers are being used to assess health risks, and we document over 100 biomedical research articles that propose associations between mitochondrial DNA and Y chromosome markers of genetic ancestry and a wide variety of disease risks. Taking as an example an association between coronary heart disease and British men belonging to Y chromosome haplogroup I, we show how this science was translated into mainstream and online media, and how it circulates among consumers of genetic tests for ancestry. We find wide variations in how the science is interpreted, which suggests the potential for confusion or misunderstanding.We recommend that stakeholders involved in creating and using estimates of genetic ancestry reconsider their policies for communicating with each other and with the public about the health implications of ancestry information.

Pub.: 11 Jan '17, Pinned: 04 Apr '17

23andMe: a new two-sided data-banking market model

Abstract: Since 2006, the genetic testing company 23andMe has collected biological samples, self-reported information, and consent documents for biobanking and research from more than 1,000,000 individuals (90 % participating in research), through a direct-to-consumer (DTC) online genetic-testing service providing a genetic ancestry report and a genetic health report. However, on November 22, 2013, the Food and Drug Administration (FDA) halted the sale of genetic health testing, on the grounds that 23andMe was not acting in accordance with federal law, by selling tests of undemonstrated reliability as predictive tests for medical risk factors. Consumers could still obtain the genetic ancestry report, but they no longer had access to the genetic health report in the United States (US). However, this did not prevent the company from continuing its health research, with previously obtained and future samples, provided that consent had been obtained from the consumers concerned, or with health reports for individuals from other countries. Furthermore, 23andMe was granted FDA authorization on February 19, 2015, first to provide reports about Bloom syndrome carrier status, and, more recently, to provide consumers with “carrier status” information for 35 genes known (with high levels of confidence) to cause disease.In this Debate, we highlight the likelihood that the primary objective of the company was probably two-fold: promoting itself within the market for predictive testing for human genetic diseases and ancestry at a low cost to consumers, and establishing a high-value database/biobank for research (one of the largest biobanks of human deoxyribonucleic acid (DNA) and personal information).By dint of this marketing approach, a two-sided market has been established between the consumer and the research laboratories, involving the establishment of a database/DNA biobank for scientific and financial gain. We describe here the profound ethical issues raised by this setup.

Pub.: 31 Mar '16, Pinned: 04 Apr '17

If you build it, they will come: unintended future uses of organised health data collections.

Abstract: Health research increasingly relies on organized collections of health data and biological samples. There are many types of sample and data collections that are used for health research, though these are collected for many purposes, not all of which are health-related. These collections exist under different jurisdictional and regulatory arrangements and include: 1) Population biobanks, cohort studies, and genome databases 2) Clinical and public health data 3) Direct-to-consumer genetic testing 4) Social media 5) Fitness trackers, health apps, and biometric data sensors Ethical, legal, and social challenges of such collections are well recognized, but there has been limited attention to the broader societal implications of the existence of these collections.Although health research conducted using these collections is broadly recognized as beneficent, secondary uses of these data and samples may be controversial. We examine both documented and hypothetical scenarios of secondary uses of health data and samples. In particular, we focus on the use of health data for purposes of: Forensic investigations Civil lawsuits Identification of victims of mass casualty events Denial of entry for border security and immigration Making health resource rationing decisions Facilitating human rights abuses in autocratic regimesCurrent safeguards relating to the use of health data and samples include research ethics oversight and privacy laws. These safeguards have a strong focus on informed consent and anonymization, which are aimed at the protection of the individual research subject. They are not intended to address broader societal implications of health data and sample collections. As such, existing arrangements are insufficient to protect against subversion of health databases for non-sanctioned secondary uses, or to provide guidance for reasonable but controversial secondary uses. We are concerned that existing debate in the scholarly literature and beyond has not sufficiently recognized the secondary data uses we outline in this paper. Our main purpose, therefore, is to raise awareness of the potential for unforeseen and unintended consequences, in particular negative consequences, of the increased availability and development of health data collections for research, by providing a comprehensive review of documented and hypothetical non-health research uses of such data.

Pub.: 08 Sep '16, Pinned: 04 Apr '17

Emergency preparedness for newborn screening and genetic services.

Abstract: Patients identified in newborn screening programs can be among the most vulnerable during a disaster due to their need to have prompt diagnosis and medical management. Recent disasters have challenged the ability of newborn screening programs to maintain the needed continuity during emergency situations. This has significant implications for the newborn screening laboratories, the diagnostic confirmation providers, and the patients who either require diagnosis or maintenance of their therapeutic interventions. In 2007, the National Coordinating Center (NCC) for the Regional Genetics and Newborn Screening Collaboratives (RCs) sponsored a meeting involving representatives of the Regional Genetics and Newborn Screening Collaborative Groups, state newborn screening programs, providers of diagnosis and confirmation services, manufacturers of equipment, medical foods, and other treatments used in patients identified in newborn screening programs, and individuals from agencies involved in disaster response including the National Disaster Medical Service, the Centers for Disease Control and Prevention, the Emergency Management Assistance Compact, the Federal Emergency Management Agency, and others. In addition to developing contingency plans for newborn screening, we have considered other uses of genetics as it is used in DNA-based kinship identification of mass casualties. The meeting resulted in the description of a wide range of issues facing newborn screening programs, provider groups, and patients for which emergency preparedness development is needed in order that appropriate response is enabled.

Pub.: 16 May '09, Pinned: 05 Apr '17

Privacy in the Genomic Era

Abstract: Genome sequencing technology has advanced at a rapid pace and it is now possible to generate highly-detailed genotypes inexpensively. The collection and analysis of such data has the potential to support various applications, including personalized medical services. While the benefits of the genomics revolution are trumpeted by the biomedical community, the increased availability of such data has major implications for personal privacy; notably because the genome has certain essential features, which include (but are not limited to) (i) an association with traits and certain diseases, (ii) identification capability (e.g., forensics), and (iii) revelation of family relationships. Moreover, direct-to-consumer DNA testing increases the likelihood that genome data will be made available in less regulated environments, such as the Internet and for-profit companies. The problem of genome data privacy thus resides at the crossroads of computer science, medicine, and public policy. While the computer scientists have addressed data privacy for various data types, there has been less attention dedicated to genomic data. Thus, the goal of this paper is to provide a systematization of knowledge for the computer science community. In doing so, we address some of the (sometimes erroneous) beliefs of this field and we report on a survey we conducted about genome data privacy with biomedical specialists. Then, after characterizing the genome privacy problem, we review the state-of-the-art regarding privacy attacks on genomic data and strategies for mitigating such attacks, as well as contextualizing these attacks from the perspective of medicine and public policy. This paper concludes with an enumeration of the challenges for genome data privacy and presents a framework to systematize the analysis of threats and the design of countermeasures as the field moves forward.

Pub.: 17 Jun '15, Pinned: 04 Apr '17

Consumers report lower confidence in their genetics knowledge following direct-to-consumer personal genomic testing.

Abstract: The aim of this study was to measure changes to genetics knowledge and self-efficacy following personal genomic testing (PGT).New customers of 23andMe and Pathway Genomics completed a series of online surveys. We measured genetics knowledge (nine true/false items) and genetics self-efficacy (five Likert-scale items) before receipt of results and 6 months after results and used paired methods to evaluate change over time. Correlates of change (e.g., decision regret) were identified using linear regression.998 PGT customers (59.9% female; 85.8% White; mean age 46.9 ± 15.5 years) were included in our analyses. Mean genetics knowledge score was 8.15 ± 0.95 (out of 9) at baseline and 8.25 ± 0.92 at 6 months (P = 0.0024). Mean self-efficacy score was 29.06 ± 5.59 (out of 35) at baseline and 27.7 ± 5.46 at 6 months (P < 0.0001); on each item, 30-45% of participants reported lower self-efficacy following PGT. Change in self-efficacy was positively associated with health-care provider consultation (P = 0.0042), impact of PGT on perceived control over one's health (P < 0.0001), and perceived value of PGT (P < 0.0001) and was negatively associated with decision regret (P < 0.0001).Lowered genetics self-efficacy following PGT may reflect an appropriate reevaluation by consumers in response to receiving complex genetic information.Genet Med 18 1, 65-72.

Pub.: 27 Mar '15, Pinned: 19 Mar '17

Internet-Based Direct-to-Consumer Genetic Testing: A Systematic Review.

Abstract: Direct-to-consumer genetic tests (DTC-GT) are easily purchased through the Internet, independent of a physician referral or approval for testing, allowing the retrieval of genetic information outside the clinical context. There is a broad debate about the testing validity, their impact on individuals, and what people know and perceive about them.The aim of this review was to collect evidence on DTC-GT from a comprehensive perspective that unravels the complexity of the phenomenon.A systematic search was carried out through PubMed, Web of Knowledge, and Embase, in addition to Google Scholar according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) checklist with the key term "Direct-to-consumer genetic test."In the final sample, 118 articles were identified. Articles were summarized in five categories according to their focus on (1) knowledge of, attitude toward use of, and perception of DTC-GT (n=37), (2) the impact of genetic risk information on users (n=37), (3) the opinion of health professionals (n=20), (4) the content of websites selling DTC-GT (n=16), and (5) the scientific evidence and clinical utility of the tests (n=14). Most of the articles analyzed the attitude, knowledge, and perception of DTC-GT, highlighting an interest in using DTC-GT, along with the need for a health care professional to help interpret the results. The articles investigating the content analysis of the websites selling these tests are in agreement that the information provided by the companies about genetic testing is not completely comprehensive for the consumer. Given that risk information can modify consumers' health behavior, there are surprisingly few studies carried out on actual consumers and they do not confirm the overall concerns on the possible impact of DTC-GT. Data from studies that investigate the quality of the tests offered confirm that they are not informative, have little predictive power, and do not measure genetic risk appropriately.The impact of DTC-GT on consumers' health perceptions and behaviors is an emerging concern. However, negative effects on consumers or health benefits have yet to be observed. Nevertheless, since the online market of DTC-GT is expected to grow, it is important to remain aware of a possible impact.

Pub.: 19 Dec '15, Pinned: 19 Mar '17

Direct-to-Consumer Genetic Testing: User Motivations, Decision Making, and Perceived Utility of Results.

Abstract: To describe the interests, decision making, and responses of consumers of direct-to-consumer personal genomic testing (DTC-PGT) services.Prior to 2013 regulatory restrictions on DTC-PGT services, 1,648 consumers from 2 leading companies completed Web surveys before and after receiving test results.Prior to testing, DTC-PGT consumers were as interested in ancestry (74% very interested) and trait information (72%) as they were in disease risks (72%). Among disease risks, heart disease (68% very interested), breast cancer (67%), and Alzheimer disease (66%) were of greatest interest prior to testing. Interest in disease risks was associated with female gender and poorer self-reported health (p < 0.01). Many consumers (38%) did not consider the possibility of unwanted information before purchasing services; this group was more likely to be older, male, and less educated (p < 0.05). After receiving results, 59% of respondents said test information would influence management of their health; 2% reported regret about seeking testing and 1% reported harm from results.DTC-PGT has attracted controversy because of the health-related information it provides, but nonmedical information is of equal or greater interest to consumers. Although many consumers did not fully consider potential risks prior to testing, DTC-PGT was generally perceived as useful in informing future health decisions.

Pub.: 10 Jan '17, Pinned: 05 Apr '17

Genetic testing for the risk of developing late effects among survivors of childhood cancer: Consumer understanding, acceptance, and willingness to pay

Abstract: Genetic testing to determine cancer survivors' risk of developing late effects from their cancer treatment will be increasingly used in survivorship care. This 2‐stage study with 64 survivors of childhood cancer and their parents investigated the preferences and acceptability of testing among those who may be at risk of developing late effects.The first stage (Stage 1) identified the most commonly perceived benefits and concerns regarding genetic testing for the risk of late effects among 24 participants. In Stage 2, during interviews, 20 survivors (55% of whom were female; mean age, 26.0 years [range, 18‐39 years]; standard deviation [SD], 0.80) and 20 parents (55% of whom were male; mean age of child survivor, 14.2 years [range, 10‐19 years]; SD, 0.79) rated the 7 most common benefits and concerns from those identified in Stage 1. Interviews were transcribed verbatim and analyzed. Decisional balance ratios were calculated by dividing the participants' average concerns scores with the average benefits scores.Genetic testing for late effects was highly acceptable: 95% of participants leaned toward testing, and the majority (65.9%) would pay up to Australian $5000. The majority (97.2%) reported it was acceptable to wait for up to 6 months to receive results, and to be offered testing immediately after treatment or when the survivor reached adulthood (62.9%). Survivors and parents had a highly positive decisional balance (Mean (M), 0.5 [SD, 0.38] and M, 0.5 [SD, 0.39], respectively), indicating that perceived benefits outweighed concerns.Although to our knowledge clinical efficacy has yet to be clearly demonstrated, survivors and parents described positive interest in genetic testing for the risk of developing late effects. Perceived benefits outweighed harms, and the majority of participants would be willing to pay, and wait, for testing. Cancer 2016. © 2016 American Cancer Society.

Pub.: 03 Jun '16, Pinned: 04 Apr '17

The end of donor anonymity: how genetic testing is likely to drive anonymous gamete donation out of business.

Abstract: Thousands of people worldwide have been conceived using donor gametes, but not all parents tell their children of their origin. Several countries now allow donor-conceived offspring to potentially know their genetic parent if they are informed of their donor-conceived status. At the same time, personal genetic testing is a rapidly expanding field. Over 3 million people have already used direct-to-consumer genetic testing to find information about their ancestry, and many are participating in international genetic genealogy databases that will match them with relatives. The increased prevalence of these technologies poses numerous challenges to the current practice of gamete donation. (i) Whether they are donating in a country that practices anonymous donation or not, donors should be informed that their anonymity is not guaranteed, as they may be traced if their DNA, or that of a relative, is added to a database. (ii) Donor-conceived adults who have not been informed of their status may find out that they are donor-conceived. (iii) Parents using donor conception need to be fully informed that their children's DNA will identify that they are not the biological parents and they should be encouraged to disclose the use of donor gametes to their children. Together, these concerns make urgent a wide-ranging societal conversation about how to best safeguard and promote the interests of donor-conceived offspring and protect the rights of donors. Specifically, there is a need to ensure that new genetic information is communicated in a way that promotes both the safety and the privacy rights of offspring and donors alike. All parties concerned must be aware that, in 2016, donor anonymity does not exist.

Pub.: 14 Apr '16, Pinned: 04 Apr '17