Presymptomatic Testing and Confidentiality in the Age of the Electronic Medical Record
Publication: The Journal of Neuropsychiatry and Clinical Neurosciences
Abstract
Objective:
Recent introduction of a commercial electronic medical record (EMR) system at the authors’ institution raised a number of questions about documenting visits for presymptomatic testing for Huntington’s disease (HD). Specifically, adoption of the EMR potentially compromised patient confidentiality and the personal delivery of test results, both of which are strongly recommended by professional consensus and lay organizations.
Methods:
The authors surveyed peer institutions about their experience with EMR systems in the setting of presymptomatic testing for HD.
Results:
Answers from 10 well-known HD specialty centers demonstrated a wide variety of approaches to managing these concerns. The responses did not clarify how to resolve the collision between the virtues of a shared medical record and the goal of patient control of sensitive medical information.
Conclusions:
These results demonstrate that important issues remain unresolved. The authors propose that medical record systems must adapt to and respect the patient’s desires for confidentiality and allow people undergoing presymptomatic testing to restrict access to this sensitive information.
For more than 20 years, we have performed presymptomatic testing for Huntington’s disease (HD) according to generally accepted guidelines (1, 2). In part, strong concerns about the confidentiality of medical records steer these guidelines. These concerns include the harm of disclosing gene-positive results when a person is still apparently healthy. Discrimination in health insurance and employment on the basis of genetic test results is illegal in the United States, but that protection is imperfect (3). These already limited protections do not extend to other types of insurance coverage, such as life insurance and long-term care insurance. Another concern may be inadvertent disclosure by a family doctor to family members, some of whom may be obligate gene carriers. Finally, there has historically been a strong concern that disclosure of gene-positive status could lead to suicide (4). Suicide does occur, though generally data suggest that carrying the gene or having manifest symptoms confers an immensely stronger risk for death by suicide than the revelation of a gene-positive result per se (5–8).
As a result of these concerns, current professional guidelines strongly recommend in-person delivery and interpretation of test results to the patient (1, 9). Guidelines also encourage assessment of psychological status before testing, before revealing results, or both (1). The success of following these guidelines may be suggested by the observation that death by suicide after presymptomatic testing following these guidelines is rare (10, 11), even though suicidal thoughts and suicide are common in HD (12, 13).
By contrast, many electronic medical record (EMR) systems allow patients to access their test results online, meaning patients may obtain their results on their own when they may be alone, without the presence of professional support or possibly even social support (14). Furthermore, EMR systems facilitate sharing medical records, including test results, with other physicians, who may or may not know the patient. Such sharing, however, can also lead to inadvertent disclosure.
Recently, our institution converted to a commercial EMR system. This change raised questions about the confidentiality of the record for our presymptomatic-testing patients. For instance, many patients do not wish genetic test results to be available to anyone else, including their insurer or even their primary care physician. Yet, patients who visit an emergency department at another institution that uses the same EMR may not realize that giving permission for the emergency team to see their medication list may also enable sharing of their entire record with all caregivers at the other institution. Furthermore, patients may not realize that a properly signed release request may lead the centralized medical records departments at most large institutions to release their entire medical record, including genetic testing results. The solution to these confidentiality concerns is not obvious or simple.
We therefore reached out to several national leader institutions to ask how they had addressed these concerns. Our goal was not to choose a nationally representative sample but rather to identify possible solutions from peer institutions from which we could identify best practices. Here, we present the results, believing that the information will likely be useful to other institutions, as our concerns are unlikely to be unique.
Methods
Thirteen institutions were selected from well-known medical centers with long-standing HD clinics, designated as the Huntington’s Disease Society of America (HDSA) Centers of Excellence and engaged in presymptomatic HD testing. The clinic social worker at each center was the initial point of contact. In some cases, the social worker obtained the answers from other staff members at his or her institution or referred us to another appropriate staff member. We chose questions relevant to our concerns. All the predetermined questions are presented in Table 1.
| Question | Yes | No | Other |
|---|---|---|---|
| Are presymptomatic testing encounters documented in your EMR? | 10 | 0 | —b |
| If yes, are they viewable to all authorized users? | 7 | 0 | 1 |
| If not, by what mechanism do you prevent others from viewing the notes? If no, how do you document the visit? | – | – | |
| For clinic visits, how [do you] handle requests by patients not to have the encounter in their EMR? | – | – | |
| Do you have a different mechanism if a patient is self-pay versus insurance? | 3 | 2 | 4 |
| Can you exclude Huntington’s disease test results from EMR even if the clinic visit is viewable in the EMR? If so, how? | 5 | 2 | 1 |
| Can you prevent genetic test results from being viewable to the patient via the portal before you have a chance to give the results in person? If yes, how do you achieve this? | 10 | 0 | |
| For research: Do you attach all research participation to the patient’s EMR? | 3 | 4 | 1 |
| Is there any difference for treatment trials versus observational research? | 1 | 4 | |
| Is there any difference for studies with a certificate of confidentiality? | 1 | 4 | |
| Is there any difference if the study is in premanifest individuals? | 0 | 4 | 1 |
| Have you engaged your legal staff in any discussion about this (e.g., laws requiring patient access to their own information, medical records sharing/access within and outside of the institution, etc.)? | 2 | 2 | 3 |
| Does the institution allow for pseudonymous/anonymous visits (for presymptomatic testing or for regular clinic visits)? | 4 | 3 | 1c |
| If so, are results documented normally in the EMR under the pseudonym? | 3 | 0 | |
| If so, is a “code” identifying pseudonyms kept, and if so, where? | 2 | 1 |
a
Additional details are available online (DOI 10.6084/m9.figshare.12055194).
b
Two respondents replied “yes but under a pseudonym.” Another respondent reported using several different medical records systems, and the information in different systems was not identical nor always linked.
c
Site policy disallows pseudonyms, but staff inform prospective patients that they do not verify identities.
Results
We received responses from 10 of the 13 institutions selected. Of these, seven are affiliated with hospitals in the U.S. News Best Hospitals Rankings for neurology. Several institutions requested not to be identified, and thus we do not name the responding institutions except to state that our own institution is included in these responses. Responses are summarized in Table 1.
Respondents provided a number of additional comments that demonstrate the wide variety of approaches to record the presymptomatic testing process in the EMR. These comments are available online (DOI 10.6084/m9.figshare.12055194). Briefly, these approaches included the following:
•
Delaying the appearance of test results in the EMR in a variety of ways,
•
Recording presymptomatic testing results only on paper,
•
Restricting documentation of clinical information (omitting the specific reason for the visit, not documenting the test results visit, or not documenting social work visits),
•
Obfuscating data (e.g., by not specifying the genetic test ordered or by scanning results as a digital image),
•
Recording all information under a pseudonym generated either by site staff or by the patient, or
•
Using a laboratory outside the institution and not connecting results to the EMR.
Several respondents noted that these practices produced discomfort or difficulties. For instance, with pseudonyms, patients could not later document having had a normal test without retesting. Respondents also noted the potential for human error with these workarounds. Another concern was that many providers with access to the EMR may not distinguish gene-positive status from a clinical diagnosis of manifest HD. Differences in philosophy and in practice were obvious. For example, staff at one institution were uncomfortable with allowing pseudonyms, whereas another respondent expressed confusion as to why institutions would have such a concern.
Discussion
There is no consensus among nationally respected institutions as to how to resolve the collision between the virtues of a shared EMR and the goal of patient control of confidential medical information. Furthermore, confidentiality remains compromised in several of the practices disclosed. These results demonstrate that important issues remain unresolved.
The HDSA originated a testing protocol in 1989 that included an effort to protect patients against premature or uninformed release of genetic information. The consortium revised the testing guidelines several times—in 1994, in 2003, and, most recently, in 2016—and each revision upheld the standard of in-person disclosure of test results (1). Most participants in presymptomatic testing programs agree with this standard (2). This choice, however, conflicts with the final Clinical Laboratory Improvement Amendments (CLIA) program and the Health Insurance Portability and Accountability Act (HIPAA) Privacy Rule, which states that covered entities must disclose results despite their possible “sensitive nature or potential for causing distress to the individual” (15, 16). The rule provides an exception for cases in which the information “is reasonably likely to endanger the life or physical safety of the individual or another person,” so long as the patient has the right of review by an unaffiliated health care professional. That exception is the core of the concern behind the HDSA protocol, but the CLIA-HIPAA Final Rule applies it on an individual basis rather than a group basis.
HIPAA, established in 1996, allows sharing information with insurers without patient consent, but we note the potential conflict of a widely shared EMR with at least the spirit of HIPAA’s mandate that generally patients control the information in their medical records and should determine when it is shared more broadly. Furthermore, HIPAA does not grant permission to open a patient’s information to those not directly involved in the patient’s care.
Some have argued that the virtues of a shared medical record outweigh the loss of confidentiality (17). They ask how a clinician can provide optimal care for a patient without full knowledge of his or her medical status and risks. We believe this is a valid point, but the balance of this potential gain with the loss of confidentiality is a decision that should at a minimum involve the patients, if not be controlled entirely by them. Additionally, our experience is that lack of control over the confidentiality of their medical record is among the most common reasons patients give for avoiding or delaying genetic testing for HD in advance of symptoms. Others have shared similar views (18).
Pseudonymous testing is used by some sites as a solution to patient confidentiality concerns. It can be done in two ways: one in which someone at the testing center maintains a list of the patient’s actual identities and another in which the patient merely invents a name to be used in the medical record. In our view, either type of pseudonym provides only a partial solution to the conflict of values. The pseudonym may protect the patient’s identity but not the durability of the medical record, the continuity of care, or a unified medical record. Pseudonymous testing is at best a bureaucratic solution to a conflict of values that deserves genuine resolution.
Klitzman (19) extensively investigated ethical dilemmas in genetic testing, including the exclusion of genetic testing from the medical record. He noted that these concerns pose “critical challenges” and create tension between potential medical benefits versus potential for discrimination. Klitzman also noted that often patients do not trust that laws will protect them, frequently leading patients to withhold genetic results from physicians, assuming the information will be entered into their EMR. He acknowledged that this may impede continuity of care.
Arias and Karlawish (20) discussed similar issues related to preclinical studies of Alzheimer’s disease (AD). They concluded the following:
Current legal and regulatory mechanisms are not sufficient to protect against harms that could have very real consequences for subjects of preclinical AD trials. To maximize subject protections and advance valuable research, policymakers, investigators, and research institutions must address shortcomings in the design of the EMR, revise laws to limit discrimination, and disclose details of risks associated with loss of confidentiality. (20)
Unfortunately, the field does not seem to have moved forward substantially since this conclusion.
Recommendations
The least controversial ethical consideration is patient autonomy, specifically respect for the patient’s choices about the confidentiality of the information in the medical record. This respect may reasonably extend to other sensitive patient care issues, such as HIV status, cognitive testing, and a history of psychosis. These cases may differ as a result of competing concerns, including possible medication interactions or current need for treatment. Furthermore, impaired cognition or limited insight color the decisions in some of these other settings. On the other hand, even for asymptomatic gene carriers, optimal diagnosis of future symptoms may require access to this sensitive information. Here, beneficence and the duty to provide optimal care compete with autonomy.
The second ethical concern arises from the clinical consensus that the potentially life-changing HD test result should be provided to patients in a supportive setting with expert clinical interpretation. The value here is nonmaleficence. This clinical consensus, of course, may be seen as paternalistic, at odds with the autonomy of those patients who wish to receive their results without returning to the office.
We do not claim to have solved the conflicts of values, and we encourage further dialogue, including with patients. But we believe that the medical record must subserve ethical values, not the other way around. As a consequence, we believe that generally medical record systems must adapt to and respect the patient’s desires for confidentiality. Favoring confidentiality is especially compelling in the case of presymptomatic testing, where there are no competing present concerns about patient capacity or the need for treatment. The medical record must allow these patients to restrict access to this sensitive information.
References
1.
Huntington’s Disease Society of America: Genetic Testing Protocol for Huntington’s Disease, 2016. http://hdsa.org/wp-content/uploads/2015/02/HDSA-Gen-Testing-Protocol-for-HD.pdf
2.
Stuttgen KM, Bollinger JM, Dvoskin RL, et al: Perspectives on genetic testing and return of results from the first cohort of presymptomatically tested individuals at risk of Huntington disease. J Genet Couns 2018; 27:1428–1437
3.
National Human Genome Research Institute: Genetic Information Nondiscrimination Act, 2008. Bethesda, Md, National Institutes of Health. https://www.govinfo.gov/content/pkg/PLAW-110publ233/html/PLAW-110publ233.htm
4.
Robins Wahlin TB: To know or not to know: a review of behaviour and suicidal ideation in preclinical Huntington’s disease. Patient Educ Couns 2007; 65:279–287
5.
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6.
Lawson K, Wiggins S, Green T, et al: The Canadian Collaborative Study Predictive Testing: Adverse psychological events occurring in the first year after predictive testing for Huntington’s disease. J Med Genet 1996; 33:856–862
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Almqvist EW, Brinkman RR, Wiggins S, et al: Canadian Collaborative Study of Predictive Testing: Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington’s disease. Clin Genet 2003; 64:300–309
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Meiser B, Dunn S: Psychological effect of genetic testing for Huntington’s disease: an update of the literature. West J Med 2001; 174:336–340
9.
Tibben A: Predictive testing for Huntington’s disease. Brain Res Bull 2007; 72:165–171
10.
Dufrasne S, Roy M, Galvez M, et al: Experience over fifteen years with a protocol for predictive testing for Huntington disease. Mol Genet Metab 2011; 102:494–504
11.
Paulsen JS, Nance M, Kim JI, et al: A review of quality of life after predictive testing for and earlier identification of neurodegenerative diseases. Prog Neurobiol 2013; 110:2–28
12.
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13.
Solberg OK, Filkuková P, Frich JC, et al: Age at death and causes of death in patients with Huntington disease in Norway in 1986–2015. J Huntingtons Dis 2018; 7:77–86
14.
Giardina TD, Baldwin J, Nystrom DT, et al: Patient perceptions of receiving test results via online portals: a mixed-methods study. J Am Med Inform Assoc 2018; 25:440–446
15.
Centers for Medicare & Medicaid Services (CMS), HHS; Centers for Disease Control and Prevention (CDC), HHS; Office for Civil Rights (OCR), HHS: CLIA program and HIPAA privacy rule; patients’ access to test reports. final rule. Fed Regist 2014; 79:7289–7316
16.
Giardina TD, Modi V, Parrish DE, et al: The patient portal and abnormal test results: an exploratory study of patient experiences. Patient Exp J 2015; 2:148–154
17.
Perera G, Holbrook A, Thabane L, et al: Views on health information sharing and privacy from primary care practices using electronic medical records. Int J Med Inform 2011; 80:94–101
18.
Moerenhout T, Fischer GS, Saelaert M, et al: Primary care physicians’ perspectives on the ethical impact of the electronic medical record. J Am Board Fam Med 2020; 33:106–117
19.
Klitzman R: Exclusion of genetic information from the medical record: ethical and medical dilemmas. JAMA 2010; 304:1120–1121
20.
Arias JJ, Karlawish J: Confidentiality in preclinical Alzheimer disease studies: when research and medical records meet. Neurology 2014; 82:725–729
Information & Authors
Information
Published In
History
Received: 17 April 2020
Accepted: 5 June 2020
Published online: 16 July 2020
Published in print: Winter 2021
Keywords
Authors
Competing Interests
Dr. Black has served as a consultant to Acadia Pharmaceuticals; he has received research grant support from Acadia Pharmaceuticals, Emalex Biosciences, and Neurocrine Biosciences; and he has served on the speaker’s bureaus of Acadia Pharmaceuticals and Teva Pharmaceuticals. The other authors report no financial relationships with commercial interests.
Funding Information
CHDI Foundationhttp://dx.doi.org/10.13039/100005725:
American Parkinson Disease Association (APDA) Center for Advanced PD Research at Washington University:
Greater St. Louis Chapter of the APDA:
The Barnes-Jewish Hospital Foundation: Elliot Stein Family Fund, Parkinson Disease Research Fund
Huntington's Disease Society of Americahttp://dx.doi.org/10.13039/100000887:
The HDSA Center of Excellence at Washington University in St. Louis:
Supported in part by the American Parkinson Disease Association (APDA) Center for Advanced Parkinson Disease Research at Washington University School of Medicine, the Barnes-Jewish Hospital Foundation (Elliot Stein Family Fund and Parkinson Disease Research Fund), the Cure Huntington’s Disease Initiative Foundation, the Greater St. Louis Chapter of the APDA, the Huntington’s Disease Society of America (HDSA), and the HDSA Center of Excellence at Washington University in St. Louis.The funders had no role in the study design, data collection, analysis, or decision to publish this article.Metrics & Citations
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