Direct to consumer genetic testing and the libertarian right to test.
J Med Ethics. 2018 11;44(11):787-789
Authors: Bonython WE, Arnold BB
Loi recently proposed a libertarian right to direct to consumer genetic testing (DTCGT)- independent of autonomy or utility-reflecting Cohen’s work on self-ownership and Hohfeld’s model of jural relations. Cohen’s model of libertarianism dealt principally with self-ownership of the physical body. Although Loi adequately accounts for the physical properties of DNA, DNA is also an informational substrate, highly conserved within families. Information about the genome of relatives of the person undergoing testing may be extrapolated without requiring direct engagement with their personal physical copy of the genome, triggering rights and interests of relatives that may differ from the rights and interests of others, that is, individual consumers, testing providers and regulators. Loi argued that regulatory interference with exercise of the right required justification, whereas prima facie exercise of the right did not. Justification of regulatory interference could include ‘conflict with other people’s rights’, ‘aggressive’ use of the genome and ‘harming others’. Harms potentially experienced by relatives as a result of the individual’s exercise of a right to test include breach of genetic privacy, violation of their right to determine when, and if, they undertake genetic testing and discrimination. Such harms may justify regulatory intervention, in the event they are recognised; motives driving ‘aggressive’ use of the genome may also be relevant. Each of the above criteria requires clarification, as potential redundancies and tensions exist between them, with different implications affecting different groups of rights holders.
PMID: 28824006 [PubMed – indexed for MEDLINE]
Do à la carte menus serve infertility patients? The ethics and regulation of in vitro fertility add-ons.
Fertil Steril. 2019 Nov 04;:
Authors: Wilkinson J, Malpas P, Hammarberg K, Mahoney Tsigdinos P, Lensen S, Jackson E, Harper J, Mol BW
Add-on treatments are the new black. They are provided (most frequently, sold) to patients undergoing in vitro fertilization on the premise that they will improve the chances of having a baby. However, the regulation of add-ons is consistently minimal, meaning that they are introduced into routine practice before they have been shown to improve the live birth rate. Debate on the adequacy of this light-touch approach rages. Defenders argue that demands for a rigorous approval process are paternalistic, as this would delay access to promising treatments. Critics respond that promising treatments may turn out to have adverse effects on patients and their offspring, contradicting the clinician’s responsibility to do no harm. Some add-ons, including earlier versions of preimplantation genetic testing for aneuploidy, might even reduce the live birth rate, raising the prospect of desperate patients paying more to worsen their chances. Informed consent represents a solution in principle, but in practice there is a clear tension between impartial information and direct-to-consumer advertising. Because the effects of a treatment cannot be known until it has been robustly evaluated, we argue that strong evidence should be required before add-ons are introduced to the clinic. In the meantime, there is an imperative to identify methods for communicating the associated risks and uncertainties of add-ons to prospective patients.
PMID: 31703942 [PubMed – as supplied by publisher]
A framework for youth-friendly genetic counseling.
J Community Genet. 2019 Nov 05;:
Authors: Young MA, Thompson K, Lewin J, Holland L
Young people represent a unique cohort in the context of both healthcare and genetic risk. Genetic counselors have long recognized and documented the challenges of working with young people and their families compared with working with older adults. Challenges for health professionals include engagement with the young person, communication, developmentally appropriate psychosocial assessment, and working with the young person and their family. Likewise, young people also report experiencing challenges within the genetic counseling process. In response to these challenges, and increasing numbers of young people presenting for genetic testing, genetic counselors at the Parkville Familial Cancer Centre (Peter MacCallum Cancer Centre, Australia) formed a collaboration with the ONTrac at Peter Mac Victorian Adolescent & Young Adult Cancer Service. Consisting of a multidisciplinary expert panel who provide care to young people with cancer and their families, the collaboration identified the need to develop an evidence-based framework to ensure the delivery of youth-friendly care and support for young people and their families facing genetic risk. To guide this work, a working party comprising of experts in genetic counseling, adolescent and young adult (AYA) oncology, adolescent health, clinical ethics, and clinical research was established. A literature review was undertaken and based on expert and consumer input and feedback, a consensus-based framework for youth-friendly genetic counseling was developed over several stages. This paper describes the evidence base supporting the development of this framework, the process of development, and the resulting framework of youth-friendly genetic counseling.
PMID: 31691103 [PubMed – as supplied by publisher]
Public reactions to direct-to-consumer genetic health tests: A comparison across the US, UK, Japan and Australia.
Eur J Hum Genet. 2019 Oct 23;:
Authors: Charbonneau J, Nicol D, Chalmers D, Kato K, Yamamoto N, Walshe J, Critchley C
While direct to consumer health-related genetic testing (DTCGT) has potential to provide accessible genetic information and empower individuals to make informed healthcare decisions, it attracts concern associated with regulatory gaps, clinical utility and potential for harm. Understanding public reactions to DTCGT is vital to facilitate considered regulatory, health care and consumer protection strategies. Yet little is known, particularly outside the dominant US market, about how the general public view and might engage with DTCGT outside traditional health care systems. This paper addresses this knowledge gap with the first empirical study to investigate general public views across four countries, each at different stages of market development. US (n = 1000), UK (n = 1014), Japanese (n = 1018) and Australian (n = 1000) respondents completed an online experimental survey assessing comprehension, risk perceptions, and potential psychological and behavioural outcomes by type of test (disease pre-disposition and drug sensitivity), severity, lifestyle factors, and family history. Results showed generally low awareness and intention to purchase across countries, highest in the US and lowest in Japan. Results also showed clear preference for within-country purchases (less in Japan), with reports returned via doctors far more important in Japan. All respondents were more likely to act on test results, where there was higher genetic or lifestyle risk of developing a disease. Statistical comparisons of demographic and health-related variables across countries point to the need for further analyses designed to explain much needed cross-cultural, cross-health care system and developed versus developing market differences.
PMID: 31645768 [PubMed – as supplied by publisher]
Ethical Implications of Direct-to-Consumer Hereditary Cancer Tests.
JAMA Oncol. 2018 10 01;4(10):1327-1328
Authors: Kilbride MK, Domchek SM, Bradbury AR
PMID: 30027223 [PubMed – indexed for MEDLINE]
Clin Chem. 2018 12;64(12):1696-1703
Authors: Schwab AP, Luu HS, Wang J, Park JY
BACKGROUND: Genetic information is unique among all laboratory data because it not only informs the current health of the specific person tested but may also be predictive of the future health of the individual and, to varying degrees, all biological relatives.
CONTENT: As DNA sequencing has become ubiquitous with decreasing cost, large repositories of genomic data have emerged from the domains of research, healthcare, law enforcement, international security, and recreational consumer interest (i.e., genealogy). Broadly shared genomic data are believed to be a key element for future discoveries in human disease. For example, the National Cancer Institute’s Genomic Data Commons is designed to promote cancer research discoveries by providing free access to the genome data sets of 12000 cancer patients. However, in parallel with the promise of curing diseases, genomic data also have the potential for harm. Genomic data that are deidentified by standard healthcare practices (e.g., removal of name, date of birth) can be reidentified by methods that combine genomic software with publicly available demographic databases (e.g., phone book). Recent law enforcement cases (i.e., Bear Brook Murders, Golden State Killer) in the US have demonstrated the power of combining DNA profiles with genealogy databases.
SUMMARY: We examine the current environment of genomic privacy and confidentiality in the US and describe current and future risks to genomic privacy. Reidentification and inference of genetic information of biological relatives will become more important as larger databases of clinical, criminal, and recreational genomic information are developed over the next decade.
PMID: 29991478 [PubMed – indexed for MEDLINE]
A New Era, New Strategies: Education and Communication Strategies to Manage Greater Access to Genomic Information.
Hastings Cent Rep. 2018 Jul;48 Suppl 2:S25-S27
Authors: Lewis MA, Bonhomme N, Bloss CS
As next-generation genomic sequencing, including whole-genome sequencing information, becomes more common in research, clinical, and public health contexts, there is a need for comprehensive communication strategies and education approaches to prepare patients and clinicians to manage this information and make informed decisions about its use, and nowhere is that imperative more pronounced than when genomic sequencing is applied to newborns. Unfortunately, in-person counseling is unlikely to be applicable or cost-effective when parents obtain genomic risk information directly via the Internet. As a rule, communication strategies should match how people are accessing health information. Today, many people can obtain health information in a variety of settings, including through direct-to-consumer services, via websites, and through other digital channels or settings. In response to these changes, new communication strategies need to be considered. Adopting a comprehensive communication model means understanding the multiple levels of influence experienced by parents and the clinicians who serve them. In addition, applying communication-science principles can help in addressing some key challenges to effectively communicating genomic information to parents.
PMID: 30133727 [PubMed – indexed for MEDLINE]