Quality of Care for Huntington’s Disease in the United States: Findings from a National Survey of Patients and Caregivers

INTRODUCTION

Huntington’s disease (HD) is an autosomal dominant, neurodegenerative disease with no cure [1]. As such, a diagnosis of HD has a wide-ranging impact not only on the affected individual, but also their family members and other caregivers. Affected individuals develop progressive motor, psychiatric and cognitive symptoms. Some individuals may care for an affected family member before being diagnosed themselves, while others (about 5–10% [1]) may be the first to be diagnosed in their family. As in other chronic diseases, there is often a high reliance on informal caregiving with tremendous social and financial strain on family members and other caregivers [2, 3]. There is little support for or coordination of this informal, at home, care in the United States.

There is significant global variation in the prevalence of HD, but recent reviews have shown the prevalence to be highest in ‘Western’ (North American, European, and Australian) populations [4]. In the US, it is believed that a large portion of patients do not seek HD-specific care due to geographical barriers, financial burden, insufficient access to experienced specialists, lack of multi-disciplinary care and social services, anxiety from stigma, discrimination, and fear of future outcomes [5]. Based on a survey of 63 HD academic research sites, the majority of which also provide clinical care, in March 2019, the Huntington Study Group (HSG) estimates that up to 70% of people living with HD in the US do not currently receive HD specialty care which involves comprehensive and integrated care services including movement disorders neurology, psychiatry, social work support/speech, swallowing and occupational therapy, genetic counseling, and nutritionist consultations for patients and caregivers [6].

Multiple HD advocacy and research groups in the US have recognized the value of advancing new and potentially transformative initiatives to improve access to, and quality of care including the provision of specialty and informal care for patients and families [7]. Consequently, the HD Care Improvement Project (HDCIP) was initiated in 2017 by HSG together with the Griffin Foundation to identify potential high-impact initiatives to improve quality of care, access to care, and outreach to HD patients and families in the US, with the explicit recognition that collaborations among key HD stakeholders and organizations will increase the likelihood of success. As a first step to accomplishing these aims, the HDCIP project team conducted a survey of HD patients, families, and caregivers to understand and document the current HD care experience and identify gaps in care provision in the US.

METHODS

RESULTS

Sample

Over the 6 weeks that the HDCIP survey was available online, 856 respondents completed the survey. Of these 59 were from an international setting and were excluded from the analyses. Of the 797 US respondents, 26.6% (n = 212) chose to answer the survey as a person affected by HD (PAHD) and 73.4% (n = 585) chose to answer as a caregiver, family member or friend of someone with HD.

Key respondent characteristics are summarized in Table 1. Respondents were from across 45 US states (Supplementary Figure 1). There was fluidity in how respondents decided to answer the survey. Most (n = 161 or 86.6%) of the 186 respondents who self-reported carrying the HD gene (diagnosed and symptomatic or positive for the HD gene) chose to answer as a PAHD. However, 146 respondents who chose to answer as a caregiver/family member also reported either having or being at risk for HD. Indeed, 25 respondents who self-identified as being diagnosed or symptomatic with HD chose to respond as a caregiver/family member.

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Fig. 1

Type of care received and reasons for ‘No additional care’ (n = 101).

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Table 1

Respondent characteristics

Characteristic	N = 797
Age (years); n (%)
18–30	48 (6.0%)
31–40	90 (11.3%)
41–50	95 (11.9%)
51–60	111 (13.9%)
61+	109 (13.7%)
Prefer not to respond/missing	344 (43.2%)
Sex; n (%)
Male	108 (13.6%)
Female	352 (44.2%)
Prefer not to respond/missing	337 (42.3%)
Ethnicity; n (%)
White	412 (51.7%)
Hispanic, Latino or Spanish origin	11 (1.4%)
Black or African-American	6 (0.8%)
Other	18 (2.3%)
Prefer not to respond/missing	350 (43.9%)
Education level; n (%)
Graduate degree	99 (12.4%)
Bachelor’s degree	136 (17.1%)
Some college, no degree	146 (18.3%)
High school diploma	49 (6.1%)
Some high school no diploma	10 (1.3%)
Prefer not to respond/missing	357 (44.8%)
Setting
Urban	101 (12.7%)
Suburban	199 (25.0%)
Rural	133 (16.7%)
Prefer not to respond/missing	364 (45.7%)
Personal HD situation; n (%)*
Diagnosed and symptomatic	79 (9.9%)
Positive for HD gene, but few/no symptoms	107 (13.4%)
At risk for HD but not tested	162 (20.3%)
Caregiver, family member or friend	511 (64.1%)
to a person with diagnosed HD

^*Respondents could choose more than one description (e.g., at risk for HD and caregiver/family member to a person with HD).

Care provision

Overall 459 (57.6%) of the 797 respondents answered questions about current level of care provision. Of these, 41.0% said they are receiving medical care, 5.7% said they are receiving community care (home physical therapy, home safety assessment, daily help, housekeeping, Meals on Wheels, budgetary help, assistance finding community resources), 31.4% said they are receiving both medical and community care and 22.0% reported having no current care support (medical or community care) (Fig. 1). The top two reasons cited for receiving ‘No other care support for HD’ (n = 101) were “high cost of care” (27.7%) and “live too far from a place providing this type of care’ (26.7%). Open text responses from patients and caregivers indicated that another reason for ‘no care’ was being minimally symptomatic (‘no need yet’). In addition, open responses from caregivers indicated that some patients are resistant to care.

Survey respondents reported receiving care from a wide range of care providers including the Huntington’s Disease Society of America Centers of Excellence (HDSA COEs), HD specialty centers, movement disorder specialty clinics, neurologists, psychiatrists, other disorder specialty clinics, and primary care. Note that at the time the results were reported, there were 86 HSG Credentialed Sites which included 40 HDSA COEs. Respondents rated their care experience at each of these settings on a 5 point Likert scale (1 = poor, 2 = fair, 3 = good, 4 = very good and 5 = excellent). Taken overall, respondents (patients and caregivers) consistently rated their care experience at all these types of settings as ‘Good’ or ‘Very Good’ (mean scores ranged between 3.1 and 4.5).

Similarly, respondents reported seeing a wide range of healthcare professionals for HD care, including HD specialists, neurologists, psychiatrists, primary care providers, psychologists, speech pathologists, occupational therapists, dieticians, social workers, and genetics counselors. Of note, PAHD respondents generally rated all their healthcare professionals as providing a ‘Very Good’ care experience (mean scores between 4.0 and 4.6), except for PCPs who were rated as providing a ‘Good’ to ‘Very Good’ care experience (mean score of 3.5). By contrast, caregiver/family respondents generally rated the same groups of healthcare professionals as providing a ‘Good’ care experience (mean scores ranged between 3.2 – 4.0). Taken overall, HD specialists were reported to provide the highest rated healthcare experience, with both PAHD and caregiver/family respondents reporting a ‘Very Good’ care experience (mean scores of 4.6 and 4.0, respectively).

Most respondents noted that the affected individual had last received HD-specific care within the past 6 months (80.9% of 341 respondents with available data); 10.3% said they had last received HD care 6–12 months ago, 6.5% said they had last received HD care more than a year ago and 2.3% said they had never received any care for HD. Further questioning about healthcare visits revealed that patients were only given information/discussed next steps half (53.1%) of the time, but questions about depression and other mental health issues were more routinely explored (89.9%) (Fig. 2).

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Fig. 2

Issues discussed with care providers.

Sources of information

Overall, 97.9% of respondents reported using the internet to access information about HD care with only 10 respondents (2.1%) noting that they have not used the internet to access information about HD care. The most common uses were to ‘look up information about HD’ (86.4%) and ‘use social media to keep up with HD’ (61.3%), while 18.1% reported using the internet to view general, non-HD specific medical test results (Fig. 3).

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Fig. 3

Use of the internet for HD research.

Respondents also rated various sources of information on a 5 point Likert scale (1 = poor, 2 = fair, 3 = good, 4 = very good and 5 = excellent). Taken overall, respondents rated HD advocacy/research organizations, the internet, HD group meetings and healthcare professionals as ‘Good’ sources of information (Fig. 4a). By contrast, family and friends were rated less highly as helpful sources of information. When questioned about specific internet and social media sites, respondents reported public and private Facebook pages and online HD chat rooms/forums as ‘Good’ sources of information (Fig. 4b). Twitter and Reddit accounts about HD were only rated as ‘Fair’ sources of information. In addition, respondents indicated that they found medical journals about HD a ‘Good’ source of information.

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Fig. 4

Ratings of different HD information sources (a) overall (b) internet sources.

Of the HD advocacy/research organizations, 76.7% of respondents with available data said they found the HDSA helpful, followed by HD Buzz (58.7%), and We Have a Face.org (19.3%). HD Drug Works, CHDI Foundation, HD Reach, HD Youth Organization, Help4HD and the National Youth Alliance were cited as useful sources of information by 9.0–17.6% of respondents. Two in five respondents said they were a member of an HD support group (40.9% of 132 PAHD respondents and 41.1% of 358 caregiver/family respondents with available data). The most frequently cited benefit of being a member of a support group was ‘Knowing you are not alone’ (85.2% of PAHD and 80.3% of caregivers/families). More PAHD respondents reported ‘Meeting others with HD’ as a benefit of group membership than caregiver/family respondents (77.8% of PAHD and 51.7% of caregivers/families) (Fig. 5).

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Fig. 5

Benefits of HD support organization membership.

DISCUSSION

The results of this survey highlight that care provision in the US is not equally distributed, and that many people affected with HD do not access multidisciplinary care. On the other hand, HD families are active in searching for information about HD that keep them up to date with advances in the field, clinical trials, and provides mutual support through the sharing of caregiving tips.

Our data show that key barriers to receiving expert HD care in the US are geography and cost. Although many people living with HD live in rural settings (at least 17% in our survey), most specialty care centers are located in urban areas. While HSG credentialed sites represent the majority of all HD specialty care centers in the US, the majority of the centers are located in the eastern half the US and about 20% are located in the western half the US. This is important to address because HD specialists were consistently rated as providing the best care experience for their patients. In addition, almost two thirds of respondents noted that the affected person did not access community care, and are therefore likely to be missing out on the basic standards of care as outlined by the European Huntington’s Disease Network (EHDN) in 2012 [8]. While the definition of best practice is always controversial, there is general agreement in the international community that people living with HD require a multidisciplinary approach to their long-term care, and that this care should include a range of services to meet evolving needs at each stage of the disease [2, 9]. Suggested core associated services include speech and language therapy, physical therapy, occupational therapy, nutritionists, and social workers, counsellors [8]. The value of these healthcare professionals was confirmed in our survey with physical therapists and occupational therapists being rated as providing the next best care experience after HD specialists. Despite the high ratings for these professionals, the lack of access should not be considered surprising since the ancillary services, multi-disciplinary care coordination, and long-term care required for HD treatment are often not reimbursable by payers and Medicaid. Increased awareness, referrals and efforts to enhance capacity may increase utilization of valuable services.

At present, there is no disease-modifying treatment for HD, so current treatment strategies remain focused on alleviating symptoms, and maintaining and improving quality of life. Though currently incurable, it is important to understand that many HD symptoms are treatable [10–13]. A reassuring finding of this survey was that all healthcare professionals were generally rated as providing at least a good care experience. However, despite receiving a generally good rating, a consistent theme in the free text responses was that respondents wish for better educated physicians, with one PAHD respondent noting that “Education for doctors, nurses and GPs [is vital], so many have never heard of Huntington’s and have to ask me how it should be treated.” Many respondents said they received care from community physicians or generalists who may have only received a few hours of education about HD across the entire course of their medical training. In this respect it is important to note that several initiatives are available for healthcare professional education. One example is HSG’s Continuing Medical Education CME4HD program, an accredited in-person and online education and training platform for healthcare providers on the management care for individuals with HD throughout the progression of the disease [14]. Other resources include pragmatic treatment guidelines [10–13], which have been developed for specific symptoms and are designed to be accessible for healthcare providers and HD families alike.

Respondents reported some inconsistency of the topics covered in the offices of their healthcare providers. For example, only about half of respondents reported discussing next steps, and about a quarter were not asked how their current medications affected their symptoms. Almost one in five respondents were not asked how their symptoms had changed. While this may reflect the different healthcare professionals involved, it does highlight room for improvement in covering the complex needs of care. In particular, several respondents noted in their free text responses that ‘HD is more than chorea’ and that aspects such as depression, anxiety and cognitive dysfunction also need to be considered. Here, it appears that healthcare professionals are more likely to discuss mental health issues (89.9% respondents reported discussing mental health) than communication, memory or learning deficits. In recent years, the importance of neuropsychiatric symptoms has been a focus of HD education, and our data highlight the medical educational need to also understand the cognitive aspects of this disease. There are not proven treatments to slow cognitive decline, but these symptoms should still be discussed to help patients and families understand and prepare for diminution of cognitive abilities with disease progression.

HD is a family disease, with impacts beyond the affected individual. The observation that caregiver/family members were somewhat more critical of the services provided (vs. PAHD respondents), highlights the need to bring all stakeholders into discussions of care. It is already known that caregivers of people with HD shoulder a huge burden of patient care, and our data suggest that many of them lack adequate support mechanisms, and resources. Depending on the stage of illness, informal care may range from help with shopping or housework on an infrequent basis to looking after all personal needs every day. This diversity of care was reflected in our findings which ranged from providing support with budget/finances (60.5%), to daily help (53.2%). Qualitative research has found that patients with HD and their caregivers require expert and long-term psychological and practical support [15]. A distinctive feature of informal caregiving for HD is the fact that many caregivers face the prospect of having the disease themselves or having to look after more than one family member (e.g. children, affected parents and grandparents). Indeed, it was striking that many respondents who identified as caregiver/family members were HD gene carriers or ‘at risk’ themselves.

The results of this survey support the assertion that a significant segment of the HD community is highly engaged and invested in learning about advances in the patient treatment and care. Patients, caregivers and families are consistently searching online for information about HD, researching clinical trials, looking up at-home care-giving tips and using social media channels to keep up with HD. This observation emphasizes the need for high quality online information. Health-related Information was generally rated as ‘good’ but there may be room for improvement, with respondents noting the important role HD advocacy groups play in providing timely, trustworthy information and related support. Patient organizations may benefit from convening targeted focus groups with patients, families and caregivers to better understand and incorporate their needs for enhancing health promotion resources.

It should be noted that this research was done before the development of HDSA online groups, so access to HD support groups was more heavily based on geography than it is today. The high level of internet use emphasizes the need for credible sources of information, but also calls attention to the need to for consistency. The community is well-informed but information is decentralized. There is also a need for more education of primary care physicians. As an aside, we note that many respondents reported using the internet to access medical papers. As such, publishers and authors should increasingly consider including lay summaries (such as those provided in Cochrane reviews) and using accessible language where possible and appropriate [16]. One of our own dilemmas in preparing this report was how to refer to the two respondent groups, knowing that patients and caregivers may access it. Not all respondents were necessarily ‘patients’ (i.e. they may not have been receiving medical care for HD) or ‘caregivers’. Our compromise was to use the language of ‘people affected by HD’ (PAHD). We urge that future publications should consider including ‘people first’ language that puts a person before their diagnosis.

To our knowledge, this is the first survey undertaken to understand the state of HD care in the US, as reported by people from HD families. The previous survey reported by Frich and colleagues surveyed clinicians at HD research sites to ascertain what clinical care was provided at individual sites [9]. It took an international approach and as such and did not consider the unique aspects of the US healthcare system. In preparation for a Food and Drug Administration Meeting, the HDSA queried the HD community in 2014-2015 to determine the most impactful symptoms [17]. Separate surveys were given online for patients and caregivers and over 3,600 responses were received, showing how PAHD prioritized treatment of symptoms. However, gaps in clinical care were not addressed in this survey.

Key strengths of the current survey include its wide reach and inclusivity of all types of people affected by HD. Although it may have been easier to force respondents to identify as a ‘patient’, ‘caregiver’ or ‘family’, this would have disregarded the often complex family situation. Limitations of this study are those inherent to surveys, which are based on self-report and the respondents own understanding of their condition and are not compared with objective clinical information. Families without a computer or non-English speakers would not have been able to access the survey. Other limitations included large amounts of missing data which may reflect the respondents’ fear of stigmatization and need for privacy. Many respondents preferred not to give their age, and so we could not look at the data by age groups. Likewise, we did not ask for information on the stage of disease, which may have given more insights into how needs develop over time. A study conducted in Norway found that patients in the middle stages of manifest disease (Stage 3) had the highest unmet needs compared to those in the earlier stages (HD Stages 1 or 2) [18]. The survey was conducted in a convenience sample, and many respondents were signposted to this survey via their advocacy group membership. This may have biased the survey towards a more informed and engaged population thereby overestimating the percentage of HD patients under the medical care and influence of HD Advocacy Groups.

One of the key aims for the HDCIP (for which this survey is a first step) is to inform the development and execution of targeted initiatives to improve the quality of care, access to care, and outreach to HD patients and families in the US. The results of this survey clearly highlight the various barriers to HD care in the US. This is important to address as higher levels of unmet needs in people with HD has been shown to be directly associated with lower quality of life [19]. Improved protocols, including standardizing follow-up care after clinic visits, will greatly improve the consistency and quality of care across the country. Collaborative partnerships and strategies are needed among all key stakeholders, including HD community members, HD advocacy and research organizations, providers, insurers, funders and other health sector organizations to enhance access to HD specialty care through innovation such as telemedicine, remote monitoring, patient engagement and education. There is now an ongoing initiative to bring academic and industry research together with patient advocacy groups to accelerate drug development for HD [7]. In order to be ready for potential new treatments, it is time to bring together the advocacy stakeholders who may be best placed to understand the current treatment landscape and identify what needs to be done to deliver high quality care to a large percent of PAHD.

CONFLICT OF INTEREST

Karen E. Anderson reports consultancy for Teva, Roche, CHDI Foundation, Prana and Lundbeck; participation in studies funded by Teva and Vaccinex, and research funding from Cures Within Reach. Jack Griffin is chair of the Griffin Foundation. Al Kinel is the President of Strategic Interests, LLC. Joni Steinman is employed by Strategic Interests, LLC and is a member of the Huntington Study Group board. Abdul R. Shaikh and Temitope Olofintuyi are employed by Guidehouse LLP (formerly PricewaterhouseCoopers Public Sector LLP), which was contracted by the Huntington Study Group to design and execute the survey. Shari Kinel is employed by the Huntington Study Group and Stevan Ramirez is a former employee of the Huntington Study Group. George Yohrling is employed by the Huntington’s Disease Society of America.