'Am I My Family’s Keeper? Disclosure Dilemmas in Next-Generation Sequencing' by Roel H.P. Wouters,Rhod´e M. Bijlsma, Margreet G.E.M. Ausems, Johannes J.M. van Delden, Emile E. Voest, and Annelien L. Bredenoord in (2016)
Human Mutation comments
Ever since genetic testing is possible for specific
mutations, ethical debate has sparked on the question
of whether professionals have a duty to warn not only
patients but also their relatives that might be at risk for
hereditary diseases.As next-generation sequencing (NGS)
swiftly finds its way into clinical practice, the questionwho
is responsible for conveying unsolicited findings to family
members becomes increasingly urgent. Traditionally,
there is a strong emphasis on the duties of the professional
in this debate. But what is the role of the patient and her
family? In this article, we discuss the question of whose
duty it is to convey relevant genetic risk information concerning
hereditary diseases that can be cured or prevented
to the relatives of patients undergoing NGS. We argue in
favor of a shared responsibility for professionals and patients
and present a strategy that reconciles these roles:
a moral accountability nudge. Incorporated into informed
consent and counseling services such as letters and online
tools, this nudge aims to create awareness on specific patient
responsibilities. Commitment of all parties is needed
to ensure adequate dissemination of results in the NGS
era.
The authors argue
Single gene testing is available for a few decades now. Since that
time, healthcare professionals have been confronted with dilemmas
that arise from the fact that genetic findings have implications
not just for individual patients but also for their family members
[Chadwick, 1997; Parker, 2001]. This debate has become increasingly
urgent in the advent of next-generation sequencing (NGS)
technologies such as whole-exome sequencing and whole-genome
sequencing. NGS techniques are particularly promising in the context
of personalized medicine [Dietel et al., 2015]. In the near future,
healthcare professionals will facemore dilemmas regarding the
disclosure of genetic test results to family members because more
peoplewill undergo genetic testing.An example of this development
lies within the context of personalized cancer care, where germ line
sequencing is an essential component in accurate assessment of actionable
mutations in neoplasms. Although the chance of finding
an unsolicited but actionable germ line mutation remains relatively
lowon an individual level [Bijlsma et al., 2016], the absolute number
of unsolicited findings is expected to be considerable [Chan et al.,
2012; van El et al., 2013]. Consequently, the ethical dilemma of
whether or not to communicate genetic results to family members
directly will occur more frequently as NGS finds its way into clinical
practice.
Current ethical literature focuses primarily on the scenario that a
patient explicitly refuses to share potentially life-saving genetic informationwith
relatives [Falk et al., 2003; Offit et al., 2004; Bombard
et al., 2012; Shah et al., 2013]. Indeed, a majority of genetic professionals
have encountered this dilemma at least once in their careers
[McLean et al., 2013]. Empirical research, however, suggests that the
refusing patient scenario occurs in less than 1%of the consultations
in the genetics clinic [Clarke et al., 2005]. Generally, patients are
willing to share relevant results with their family members. Moreover,
the possibility to inform relatives about hereditary diseases
is an important motivation for patients to undergo whole-exome
sequencing. Until now, this has primarily taken place in a research
setting rather than within a clinical diagnostics setting [Clarke et al.,
2005; Facio et al., 2013; Hitch et al., 2014]. This article, therefore,
concentrates on a much more common situation: a patient is not
opposed to sharing genetic information but nevertheless fails to
informher relatives. Particularly urgent in this situation is information
on hereditary diseases that can be cured or prevented. Although
probands know that it is important to inform family members and
are generally willing to do so, data suggest that this vital transfer
of information often fails to occur [Claes et al., 2003; Sharaf et al.,
2013; de Geus et al., 2015]. Uptake of genetic testing tends to be
quite low, approximately half of the relatives undergoes genetic testing
after a potentially life-threatening mutation (e.g., HNPCC) has
been found [Gaff et al., 2007]. This suggests that index patients
often do not adequately inform at-risk people in their families.
Reasons for not sharing results include not feeling close to family
members, not finding the right time and words, and anticipation
of negative reactions [Seymour et al., 2010; Wiseman et al., 2010].
Traditionally, there is a strong emphasis on the duties of the professional
in this debate [Godard et al., 2006; Dheensa et al., 2016].
But what is the role of the patient and her family? Family ethics
is a domain in the field of bioethics that has not been given much
attention, and only a few authors have dealt with the subject of responsibilities
that arisewithin a family [Lindemann, 2014]. Whereas
the current literature about family ethics views the family as a community
rooted in shared values rather than shared genes [Verkerk
et al., 2015], NGS draws the attention toward responsibilities that
emerge within a genetic family. In this article, we examine the question
of who is responsible for conveying actionable information to
relatives of patients undergoing NGS.
The authors cite Bonython and Arnold, 'Disclosure ‘downunder’: misadventures in Australian
genetic privacy law' (2014) 40
Journal of Medical Ethics 168–172.
‘Clinical genomics, big data, and electronic medical records: reconciling patient rights with research when privacy and science collide’ by Jennifer Kulynych and Henry T. Greely in (2017) 4(1)
Journal of Law and the Biosciences 94 comments
Widespread use of medical records for research, without consent, attracts little scrutiny compared to biospecimen research, where concerns about genomic privacy prompted recent federal proposals to mandate consent. This paper explores an important consequence of the proliferation of electronic health records (EHRs) in this permissive atmosphere: with the advent of clinical gene sequencing, EHR-based secondary research poses genetic privacy risks akin to those of biospecimen research, yet regulators still permit researchers to call gene sequence data ‘de-identified’, removing such data from the protection of the federal Privacy Rule and federal human subjects regulations. Medical centers and other providers seeking to offer genomic ‘personalized medicine’ now confront the problem of governing the secondary use of clinical genomic data as privacy risks escalate. We argue that regulators should no longer permit HIPAA-covered entities to treat dense genomic data as de-identified health information. Even with this step, the Privacy Rule would still permit disclosure of clinical genomic data for research, without consent, under a data use agreement, so we also urge that providers give patients specific notice before disclosing clinical genomic data for research, permitting (where possible) some degree of choice and control. To aid providers who offer clinical gene sequencing, we suggest both general approaches and specific actions to reconcile patients’ rights and interests with genomic research.
The authors argue
With the broad adoption of electronic medical record (EMR) systems, researchers can mine vast amounts of patient data, searching for the best predictors of health outcomes. Many of these predictors may lie in the genome, the encoded representation of each person’s DNA. As gene sequencing continues to evolve from a complex, expensive research tool to a routine, affordable screening test, most of us are likely to have our DNA fully digitized, vastly expanding the already large store of electronic health data already preserved in or linked to our EMRs. In parallel, genomic researchers will, increasingly, seek out EMRs as an inexpensive source of population-wide genome, health, and phenotype data, thus turning patients into the subjects of genomic research. This will often occur without the patients’ knowledge, let alone their consent, in a research climate where the privacy risks are routinely discounted and data security can be uncertain. The implications, both for research and for privacy, are profound, but the prospect has received little attention in the literature.
The widespread re-use of health information in EMRs is already commonplace, but those records typically don’t include detailed genomic information. The landscape is changing, however, as technical advances make sequencing and storing patient genomes increasingly affordable, and as providers and academic medical institutions— along with government, science, and industry—envision using genomic data to enable ‘precision medicine’. As more patients have genomic data linked to their medical records, absent a change in policy or practice we will see the same non-consensual re-use of these data already allowed for other forms of health information.
Advocates of the status quo argue either that there is little real re-identification risk for genomic data (the ‘privacy through obscurity’ theory) or in the alternative, that if the risk is real, the consequences are minor, because relative to other forms of health data, information about genetic variation is less stigmatizing, less valuable, and, therefore, less attractive to hackers and criminals. The net effect of these rationales is a privacy standard for DNA sequences much lower than what currently applies to data elements such as URLs, fingerprints, and zip codes—each enumerated as an identifier under the Privacy Rule and protected when linked to health information.
Moreover, even assuming arguendo that genome sequence data don’t constitute particularly sensitive health information, it is becoming difficult to maintain that a gene sequence (or substantial subset thereof) is not an ‘identifier’ that places any associated health or demographic information at risk, when databases of identifiable sequence data are proliferating and researchers are exploring ways to sequence DNA rapidly for use as a biometric identifier.
And, finally, at the heart of this issue lies an important ethical, and practical, question: Should the scientific and provider communities continue to disregard the accumulating evidence from repeated studies that patients expect to be told about, and to control, research uses of their genomic and health information?
The prospect of eventual, widespread EMR-based genomic research under current privacy practices drove us to write this paper. The paper proceeds in five parts: setting out the problem, reviewing the current status of records-based biomedical research, noting other secondary uses of medical records, describing the conflict between individual rights and societal interests implicated in genomics-based research, and providing our recommendations for a balanced approach.
We acknowledge the vigorous debate over almost every aspect of the problem of genomic privacy: whether genomic data are identifiable, whether it is likely that anyone would try to re-identify a subject of genomic research, whether patients have an obligation to participate in such research regardless of personal preference. Our paper builds on the 2008 recommendations of the Personalized Health Care Work Group of the US Department of Health and Human Services (‘DHHS’) American Health Information Community, which advocated special protections for the research use of genomic data in EMRs, arguing that such data are exceptional relative to other sensitive information due to their uniqueness and potential for re-identification. Without engaging the debate over ‘genetic exceptionalism’, we maintain that it is still useful here to draw a line—even if it is in sand—and to insist that if patients have any genuine right to understand and influence the uses of any of their sensitive medical information, such a right must include their genomes. That all bright lines are imperfect does not mean no lines are useful.
Although we do not call for legal or regulatory changes, we question whether current federal health privacy law, properly interpreted, actually permits health care providers, whether clinicians or academics, to treat whole genome sequence data as ‘de-identified’ information subject to no ethical oversight or security precautions, especially when genomes are combined with health histories and demographic data. We recognize that pending amendments to the federal Common Rule might affect and even further strengthen our argument, especially if, as proposed, IRBs would no longer oversee much secondary research involving medical records (as discussed below in Section II.A.2). We do not discuss those proposed changes in detail. The Common Rule amendments have been pending for half a decade, since the Advance Notice of Proposed Rulemaking (ANPR) was published in July 2011, so we do not assume that relevant regulatory changes are imminent or that their final form is predictable.
We conclude by offering standards (versus new regulations), for individual providers and provider institutions (eg academic medical centers, HMO, and large medical practices) to follow in dealing with both patients and researchers interested in genomic data of those patients. In these standards, we propose a model point-of-care notice and disclosure form for EMR-based genomic research. We call for rigorous data security standards and data use agreements (DUAs) in all EMR genomic research, but note that DUAs are relatively toothless without the means to audit compliance and penalize non-compliance. We acknowledge the limitations of any model of permission or consent, recognizing that such models can’t anticipate every legitimate use or disclosure occurring in connection with research. At the same time we do not agree that, at least in American culture, there is popular support for the view that all patients have a legal or ethical obligation to become subjects of all secondary records research, however, valuable the science. Finally, we consider how researchers might encourage patient participation by sharing more information about the research, more quickly, with the patients whose data they obtain.
The stakes are high and time is limited. There are compelling reasons why researchers want and need to combine EMRs with genomic data. Without new steps to promote disclosure and awareness, one day the public will discover that medical and genomic information it assumed was confidential is in fact used widely, and at some privacy risk, in research the subjects neither consented to nor even knew about. This discovery could become an ethical, practical, and political landmine—one that we can, and should, avoid.
