Predictive testing for Huntington’s disease in a digital age; patient power with potential pitfalls

The Danish Digital Health Strategy, implemented from 2018, is an example of advanced and integrated digitization allowing patients immediate digital access to most data (https://sundhedsdatastyrelsen.dk/da/english/digital_health_solutions/digital_health_strategy). In February 2025 a new database will be established enabling automatic release of results from all pathology including genetic tests.

The European Huntington’s Disease Network and European Huntington’s Association responded to concerns raised and here we outline the potential implications for Huntington’s Disease.

Huntington’s disease (HD) is a dominantly inherited neurodegenerative condition. Due to the inherited nature, an absence of preventative measures or disease modifying therapies and high variability in phenotype and age of onset; predictive testing for at risk family members follows international best practise recommendations [1]. These recommendations establish minimum standards for genetic counselling, to prepare at risk individuals and provide a reference point for ethical and clinical dilemmas. The aim is to ensure that people at risk of HD are well informed and supported at all stages of their decision-making process; before, during and after testing and that the process is robust to minimise post-test regret and the risk of severe adverse reactions.

They serve as a model for other inherited late-onset neurological disorders.

Digitization of health records allows prompt access to health information but raises several concerns in relation to predictive testing. Unregulated access to results could lead to misunderstanding by patients and healthcare professionals; there are risks that pre-symptomatic individuals are mis-labelled as affected, and there is potential for discrimination through inappropriate sharing of a predictive test result with prospective employers or insurance companies as part of a wider health care record release. Whilst these concerns are not specific to Denmark, their strategy to include genetic results directly impacts predictive test recommendations (Table 1). It is essential to avoid miscommunication of this life-altering information and provide timely psychological support. In addition, an individual has the right to postpone or cancel disclosure and the strategy reduces patient autonomy, potentially coercing individuals to receive a result that they are not ready for (Table 2).

Studies following predictive testing demonstrate hopelessness [2] and adverse effects on mental health can occur [3]. This is also true of gene-negative results where post-test counselling remains beneficial [4]. Whilst many people adjust to their result, a small but significant percentage experience serious adverse reactions including suicidality [5]. These people received their results in person according to current recommendations. The number of adverse events could increase in the absence of professional support at the point of accessing results.

Several themes emerged from a literature review with the search terms ‘electronic health record AND patient online access results [6]. There are limited large-scale reports and the literature specific to genomics is sparse.

Patient engagement

Online access to healthcare results makes it easier for patients to obtain information [7] increasing patient engagement resulting in them being better informed, better prepared for appointments, and more likely to ask pertinent questions. Using electronic health records leads to increased information sharing with patients, engagement with management plans and increased clarity of information [8].

Potential severity of result

There are recommendations to limit digital access for more serious test results in the absence of appropriate follow-up [9] and apprehension from patients to receive potentially bad news results online without direct access to a clinician [10, 11].

Timing of results

Some prefer to receive digital results as soon as possible in order to increase health transparency, to be reassured quickly or to begin processing bad news and prepare for a medical consultation [7]. In contrast, some do not want to learn more serious results online even if this results in a longer wait for results to be given in an appointment [9].

Impact on wellbeing

There is general agreement that viewing results online is valuable, improves understanding and promotes patient autonomy [10] and there is demand for access to both raw data and reports [9]. However online access and automatic results release can increase anxiety and distress [12,13,14,15]. Results revealing a new diagnosis can lead to information seeking [12]. Interpretation of results is challenging and can result in health anxiety for insignificant results and increased clinician workload [13, 14]. There are also concerns about discovering unexpected information in online records [16].

Potential for discrimination

There are concerns related to understanding of medical terminology and a potential for breaches of confidential health data [15]. Barriers to accessing digital platforms include poor health literacy, language and socioeconomic disparities thereby increasing health inequality [4, 17, 18]. People from certain minorities are less likely to be offered access to online portals by their clinician [19]. Women, English speakers, younger (25–39 years) people and those with private insurance are more likely to access [20].

The literature specific to genomics and digital records and automatic release of results is limited. It should be noted that genomic data is not always subject to access restrictions in digital records [17] and some HD speciality centres may take additional steps to prevent discrimination and protect confidentiality; omitting referral reasons, using pseudonyms, or retaining paper results [21]. This poses challenges due to increased workload, identification errors, inability to easily retrieve results and risk of missing records [22].

The recent CADRe framework highlights key components in consent for genetic testing and stresses the importance of a clear discussion of the timing and manner of return of results [18].

The MAGENTA study investigated the effects of omitting genetic counselling during testing for BRCA1 and BRCA2 with online release of results. There was no significant difference in distress in groups with no counselling but there were very few positive results which were spread across all groups [23].

There is disparity between medical professionals and the public regarding the utility and significance of results from direct-to-consumer genetic health testing companies but they are an existing example of automatic release of genomic results. They include disclaimers for consumers to acknowledge prior to release of results, recommend genetic counselling and consumers can exclude specific results, including BRCA1 and BRCA2 and Alzheimer’s Disease. The engagement and understanding of these disclaimers is variable and there are examples of significant distress following receipt of results [24, 25].

Digital advances are inevitable and to be supported but careful consideration of specific scenarios and flexibility in implementation is crucial.

Online access to patient data and results can increase patient engagement, adherence to management plans and assist in clarification of important information. However, benefits may not endure for all results and healthcare professionals and patients both advise against automatic release where the implication of the result could be serious, as is the case for HD predictive test results.

The potential severity, the timing of release of results and the potential for health inequalities have emerged as themes directly relevant to HD and we stress the importance of maintaining the integrity of existing recommendations for predictive testing.

The experiences from online testing in cancer genetics should be extrapolated with caution; they may allow access to screening programmes for early detection, early intervention and potentially disease modifying therapies where the results from predictive testing for adult onset neurodegenerative conditions do not and therefore adverse outcomes from receiving results may be greater, specifically to those already vulnerable [26].

We recommend clinician-controlled release of online results. Genetic test results are technical reports containing testing methods and validation and are intended for clinicians. Clinician controlled release maintains existing genetic counselling practise allowing a mutually convenient in person (or video) appointment to ensure communication of the result is clear and understood, that appropriate support and follow up are in place and to establish patient agreement to digital release.

This approach mitigates for those situations where patients choose not to receive their results.

Where a healthcare system lacks flexibility and mandates change; predictive testing protocols must be adapted to include discussion of and preparation for automatic results release.

Aspects to consider should include (Table 3); Patients should be familiarised with report templates and where to find relevant information. A clear timescale for results and how they will be notified (i.e. app notification, email, text message). Discussions could include avoidance of opening notifications inadvertently, though this may be challenging in practise. A notification could be ignored to wait for the results appointment, or the notification could open in a controlled manner with an agreed support person to digest the result prior to a carefully planned appointment. Contacts for clinical team the appropriate Huntington’s disease support organisation as well as local mental health crisis support would be essential.

Appropriate information regarding access to the report by health professionals or agencies should also be given.

This approach, whilst aiming to maintain the integrity of genetic counselling does not mitigate all risk and increases the burden of careful co-ordination on patients, the laboratory, and clinical services.

Online access to healthcare data has the potential to increase patient autonomy and engagement. However, an inflexible approach to automation paradoxically risks a patient centred approach and should be approached with caution. Implementation of healthcare digitisation should protect those seeking predictive testing for HD and other neurodegenerative conditions and maintain the integrity of genetic counselling recommendations. We recommend clinician-controlled release of genetic test results as opposed to automatic digital release and advise adequate consultation including with lay organisations. Research to ascertain the opinions of HD patients, their families and healthcare professionals regarding online access to genetic test results could be considered to shape future digitation strategies.