'A Legal Duty of Genetic Recontact in Canada' by Adrian Thorogood, Alexander Bernier, Ma'n H. Zawati and Bartha Maria Knoppers (Health Law in Canada, 2019)
comments
Our understanding of the clinical significance of genomic data is rapidly evolving. The meaning of a patient’s test results can therefore change over time. Reanalysis of genomic data over time and patient recontact offer an opportunity to improve patient health. But are physicians legally responsible to do so? Professional associations worldwide are outlining best practices for genetic recontact. To inform Canadian guidelines and courts faced with this issue, we review Canadian case law to determine if there is a likely doctrinal basis for judicial recognition of a duty to recontact in genetics. Foreign guidelines or malpractice case law may not adequately reflect the peculiarities of Canada’s diverse legal and public health systems. A threshold consideration is the duration of the physician-patient relationship, seeing as physicians do not generally owe legal duties to former patients. This legal relationship endures according to the need for continued care as well as the subjective perspectives of both physician and patient. Satisfying these criteria in genetics can be difficult because of interpretative uncertainty or the absence of definitive intervention. Moreover, coordination of genetic analysis, communication, and follow-up care between healthcare professionals is complex, leading to problems of incomplete hand-off between laboratories, specialists, and primary care providers. The key challenge for plaintiffs will be to establish fault, that is, breach of a duty. Physicians in Canada traditionally have duties to diagnose, inform, follow-up and of confidentiality. We conclude that a legal duty of genetic recontact is only likely in specific circumstances where physicians acquire updated genetic information of clear health significance. This remains unlikely unless health systems or laboratories commit to systemic and adaptive reanalysis. This may change with the confluence of whole genome testing and advanced health information technologies (HIT). Whole genome sequences include millions of individual genetic variants and in turn, millions of opportunities for adaptive reinterpretation. HIT enables data sharing between laboratories, automated reanalysis of genomic test results, and new lines of communication with physicians and patients. Fundamentally, it is only health systems or institutions that can provide the infrastructure needed to adapt patient care in step with an evolving genetic knowledgebase.
'The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results' (ASHG Position Statement) by Yvonne Bombard, Kyle B. Brothers, ara Fitzgerald-Butt, Nanibaa’ A. Garrison, Leila Jamal, Cynthia A. James, Gail P. Jarvik, Jennifer B. McCormick, Tanya N. Nelson, Kelly E. Ormond, Heidi L. Rehm, Julie Richer, Emmanuelle Souzeau, Jason L. Vassy, Jennifer K. Wagner, and Howard P. Levy in (2019) 104(4)
The American Journal of Human Genetics 578-595 comments
The evidence base supporting genetic and genomic sequence-variant interpretations is continuously evolving. An inherent consequence is that a variant’s clinical significance might be reinterpreted over time as new evidence emerges regarding its pathogenicity or lack thereof. This raises ethical, legal, and financial issues as to whether there is a responsibility to recontact research participants to provideupdates on reinterpretations of variants after the initial analysis. There has been discussion concerning the extent of this obligation inthe context of both research and clinical care. Although clinical recommendations have begun to emerge, guidance is lacking on the responsibilities of researchers to inform participants of reinterpreted results. To respond, an American Society of Human Genetics (ASHG) workgroup developed this position statement, which was approved by the ASHG Board in November 2018. The workgroup included representatives from the National Society of Genetic Counselors, the Canadian College of Medical Genetics, and the Canadian Association of Genetic Counsellors. The final statement includes twelve position statements that were endorsed or supported by the following organizations: Genetic Alliance, European Society of Human Genetics, Canadian Association of Genetic Counsellors, American Association of Anthropological Genetics, Executive Committee of the American Association of Physical Anthropologists, CanadianCollege of Medical Genetics, Human Genetics Society of Australasia, and National Society of Genetic Counselors.
‘The law of genetic privacy: applications, implications, and limitations’ by Ellen Wright Clayton, Barbara J. Evans, James W. Hazel and Mark A. Rothstein in (2019) 6(1)
Journal of Law and the Biosciences 1
comments
Recent advances in technology have significantly improved the accuracy of genetic testing and analysis, and substantially reduced its cost, resulting in a dramatic increase in the amount of genetic information generated, analysed, shared, and stored by diverse individuals and entities. Given the diversity of actors and their interests, coupled with the wide variety of ways genetic data are held, it has been difficult to develop broadly applicable legal principles for genetic privacy. This article examines the current landscape of genetic privacy to identify the roles that the law does or should play, with a focus on federal statutes and regulations, including the Health Insurance Portability and Accountability Act (HIPAA) and the Genetic Information Nondiscrimination Act (GINA). After considering the many contexts in which issues of genetic privacy arise, the article concludes that few, if any, applicable legal doctrines or enactments provide adequate protection or meaningful control to individuals over disclosures that may affect them. The article describes why it may be time to shift attention from attempting to control access to genetic information to considering the more challenging question of how these data can be used and under what conditions, explicitly addressing trade-offs between individual and social goods in numerous applications.
The authors argue
People often view genetic information about themselves as private. Each person’s genome, or full complement of DNA, is unique, but the specific variants within an individual’s genome may be widely shared with biological relatives or even across the entire human population. This mixed character of the genome—as a uniquely individual assemblage of widely shared common elements—imbues it with a dual private and public significance that confounds any discussion of policy addressing genetic privacy.
On one hand, DNA has been conceptualized as a unique identifier and a person’s book of life, which provides insights into many aspects of the person’s future, although perhaps not as much as many people might think. This conceptualization leads many people to want to control who has access to genetic information about them and drives calls for strong privacy protection or even personal genetic data ownership. On the other hand, genetic data are not limited to one individual, with information about one person revealing information about the person’s close and distant biological relatives. Only by studying genetic information from many people can the significance of the individual’s variants be discerned. The importance of understanding the causes of health and disease has led some to argue that people have some obligation to share data about themselves for low-risk research.
At the same time, the very concept of ‘privacy’ has evolved in recent decades and a new model of privacy has gained ground. The traditional view of privacy as secrecy or concealment—as a ‘right to be let alone’—has grown increasingly strained in the Information Age. The Internet and ubiquitous communication technologies facilitate broad sharing of information, including highly personal information, often without the individual’s knowledge or consent.
This public nature and value of the genome makes it difficult to decide what level of control individuals should have and how to provide appropriate privacy protections.
A new theorization of privacy has emerged, in which concealing one’s secrets ‘is less relevant than being in control of the distribution and use by others’ of the data people generate in the course of seeking healthcare, conducting consumer transactions, and going about their lives. ‘The leading paradigm on the Internet and in the “real,”’ or off-line world, conceives of privacy as a personal right to control the use of one’s data’, including enjoying access and using it by oneself.
Deciding how much control people should have over access to and use of genetic data about themselves has taken on increased urgency in recent years. Until recently, there simply was less genetic information to worry about, because a person’s genetic makeup could be inferred only by studying his or her phenotypic characteristics and family history. It was possible, for example, to tell something about people’s eye color genes by looking at their eyes, but not whether they had a gene variant that modestly elevated their cholesterol level or whether they were at increased risk of developing a common complex disorder.
Dramatic advances in technology has now made it possible to examine DNA directly with increasing accuracy and decreasing cost, thereby contributing to the dramatic growth in genome-based approaches, such as exome- or genome-based sequencing, which can provide dramatically more information than single-gene tests. These genomic tests have already proven valuable in diagnosing disorders whose etiology is unknown, as can be the case for some children with developmental disability or critical illness as neonates. There is also growing interest in using genome-scale tests to answer narrower clinical questions on the ground that these approaches are more efficient than testing a more limited number of genes. But moving to genome-based technologies has consequences for an individual’s privacy because having genomic data makes it possible to examine all the genetic variants regardless of the original reason for testing.
As this technology and our understanding of genomics have improved, a growing number of individuals and entities seek access to individual genetic information. For example, millions of people have pursued testing to learn about their ancestry and to identify previously unknown relatives, endeavors that require access to the information of others as well as their own. In addition, clinicians might seek the data to refine a patient’s diagnosis or care. Biomedical researchers might want to examine genetic information to understand the ways that genetic variation contributes to health and disease. Life insurers might want to use this information for underwriting. Parties in toxic tort cases might try to use this information to establish or rebut causation. Law enforcement might want to use the information to identify victims of mass attacks or criminal suspects.
Numerous studies show that many people are more comfortable sharing their genetic data with physicians and researchers in the institution where they seek care than with the government or commercial entities. People also vary widely in how much they are concerned about genetic privacy and privacy in general.
Given the diversity of actors and their interests, the increasing power of genetic technologies, and the wide variety of ways these data are held, it is difficult to develop broadly applicable legal principles for genetic privacy. As has been true since the earliest debates about genetic privacy, which began decades ago, public policy often involves balancing the rights of individuals to maintain the privacy of their genetic information with the rights of other individuals and the public to access the information. The trade-offs often implicate both personal and societal interests, which vary depending on the context. Whether the state can conduct newborn screening for genetic disorders raises different questions from whether an insurer can use genetic information for underwriting health, life, disability, or long-term care insurance, each of which presents its own challenges. In addition, the wide variety of actors and locations are subject to different regulatory schemes.
This article examines the landscape of genetic privacy to identify the roles the law does or should play. Because of the complexity of genetic privacy law, it is infeasible to address all of the issues in a single article. Consequently, the article does not address in detail genetic privacy in reproductive genetic testing, human subjects research involving genetics, state statutes and regulations pertaining to genetic privacy, and common law actions for invasion of privacy. The article’s primary focus is on federal statutes and regulations. After considering the many contexts in which issues of genetic privacy arise, the article concludes that few, if any, applicable legal doctrines or enactments provide adequate protection. For simplicity, and to acknowledge the deep roots of these debates, the article refers to ‘genetic’ privacy, but it clearly contemplates and gives special attention to the implications of the expanding role of genomics and associated technologies.
