Patients both desire and need to be involved at every level of their healthcare. Within the last decade there’s been a trend toward patient involvement with the broad terms ‘patient engagement’ and ‘patient centered’ appearing in articles, at conferences, and in medical literature. Building momentum over the last few years, this topic has received increased attention under a variety of terms that all express a paradigm shift from ‘patients under treatment’ to ‘patient experts’ recognized as able to provide insight and key information useful to researchers, clinicians, clinical trial directors, and others. Patient involvement – is there an app for that?1 What value do patients and patient organizations bring for advancing understanding of the disease burden, providing insight into orphan drug R & D, engaging with all stages of clinical trial levels, and generally collaborating with other stakeholders to promote better patient outcomes?
Patients are fully and intimately involved with all stages of the healthcare experience, from initial medical discussions with their providers at the onset of health issues to the daily experiences of striving to meet the challenges of living with their medical condition. For rare disease patients, this complex array of issues and concerns is even more difficult to navigate due to the lack of information, resources, and support for conditions that few in the medical field will ever see, diagnose, or treat within their professional careers. In an article written for the pharmaceutical industry, Wendy White notes, “Facing endless healthcare questions without many answers, rare disorder patients often take the lead in driving and managing their own diagnosis and treatment. Understandably, they rely heavily on the Internet for information that may not be available anywhere else. ‘Dr. Google’ is frequently consulted when searching symptoms or treatment options, verifying a physician’s diagnosis, or finding information about a prescription drug.” 2 For many patients living with rare disease, patient theorganizations may act as the primary source of information, resources and support. 3
Of the estimated 7000 rare diseases few are fortunate enough to have a disease-specific patient organization, though many rare disease advocates gather in groups or become allied with larger rare or genetic disease organizations. The internet has played an important role in providing a collaborative base that provides knowledge from research and from health professionals in combination with social support for patients and caregivers. Empowering patients, family members and caregivers on a grassroots level can provide an entry point for advocacy that can evolve to create broader impact on healthcare policy. “Many organisations have developed an advocacy role, and represent the collective identity of their members in the public and political domain. Patient advocacy groups fight for public recognition of their disease through awareness campaigns, the speed and efficiency of which have been revolutionised by using websites, e-mail and social media. The political impact of patient organisations has also grown as they strive for action and change, and increasingly patient organisation representatives are included in official bodies advising on health policy and care decisions.” 4
Contributions from the patient and caregiver community can provide important input into a wide variety of aspects within research, healthcare and commercial concerns. Drawing on the experience of patient organizations in Europe, “Empowering patients in research means recognising that patients can act as full and equal partners, developers or funders of fundamental and clinical research, in rare diseases. They should not be considered only as subjects in clinical trials. “5 Furthermore, “Public and private researchers should initiate collaboration with patients and patients’ organisations at early stages of development. Patients are the best placed to understand their disease, the clinical differences that a treatment can make and also the contributions that can assist fundamental research such as funding or access to biological samples from other patients. This is particularly true for patients with rare diseases.” 5 Individual patients and caregivers, key advocacy leaders (KOLs), and patient organizations can provide input from first-hand experience with the disease, using their unique vantage points to help establish a deeper and more quantitative knowledge through their authentic and informed patient voice.
Involving patients and patient organizations early and often is wise for every level and at all stages of drug R & D, medical research efforts, rare disease registries, clinical trials, and determination of healthcare policies. Thinking of patients as healthcare consumers may drive home a key point: no one intending to introduce a consumer product would launch efforts of new product discovery without clear ideas of consumer needs, relative issues, and marketplace conditions. “For most of the pharmaceutical industry, the focus on patient centricity is a relatively new phenomenon, and the industry continues to shift its focus to include patients as stakeholders when planning its marketing strategies, clinical trials, and R&D strategies. However, for the rare disease sector, the patient has always been front and center, championing for new therapies, looking for treatments, and demanding that the industry pay attention to their unmet needs.”6 Collaborating early with patient organizations and individuals to provide a patient voice can streamline and focus efforts of researchers and pharma in the rare space, providing a more efficient and effective way to proceed with later stages of research or to bring an orphan drug to market. Why launch a rare disease patient survey, without first ensuring the questions will garner the most meaningful data? How will a marketing team be able to identify and survey all sub-categories of a patient population, in able to ensure that all aspects of the disease state and patient challenges are evaluated?
There is a wide variation in patient access to treatment around the world, which is compounded by global differences in treatment cost parameters, healthcare policies, and national regulatory environments. Each nation and culture has its own nuances, which may impact participation in research efforts or may impact the time frame needed at various levels of R & D or policy progress. Patient involvement at initial stages can help inform broader engagement later and help researchers and pharma better navigate through potential barriers. “While adhering to national, legal and ethnical standards, information sheets and consent, it helps if forms can be tailored towards the local ethnic minority population. Written translations are often of limited value in the recruitment of patients with no or limited knowledge of English. In some cultural settings, tape-recorded verbal consent (following approval presentations) may be an acceptable substitute for written consent, and appropriate legislative changes should be considered to facilitate this option. Approaches should be tailored to specific minority populations, taking consideration of their unique characteristics and with input from their community leadership.”7 Patient organizations can help identify which initiatives or efforts may conflict with national advocacy climates, cultural issues, or other potential barriers and additionally can facilitate the identification of practices and outlets likely to amplify positive results for stakeholders.
Patient engagement is slowly changing the face of medicine in all facets, from interactions with medical professionals and healthcare issues to various research efforts and biotech developments. For many rare disease populations, much remains to be done in order to bring popular views and theory regarding patient involvement and patient-centered care into actualized long-term and meaningful practice. Researchers, pharma, and clinical trial leads could engage earlier to better utilize input from patient organizations, to more deeply understand the patient experience, and to seek key people and groups to gain focus group insight. “The development of a patient-centered approach to medicine is gradually allowing more patients to be involved in their own medical decisions. However, this change is not happening at the same rate in clinical research, where research generally continues to be carried out on patients, but not with patients.” 8
Providing more treatment options, broadening access to medical care, and promoting better patient outcomes with good quality of life – these all should be central to the heart of medical care, scientific inquiry and advocacy efforts. Collaboration and connections are vital to share information and experiences that foster advancements in the rare disease arena, yet time and resources need to be better optimized to allow for opportunities to be more fully captured. “Health care professionals, regulators, communication media, patient associations, and pharmaceutical companies need to collaborate to provide proper information about the purposes of research and the mechanisms available to protect participants. Society must realize that there is no progress without research, and that without patient participation in current studies, there can be no new knowledge to benefit future patients.” 8
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1 Land, Heather. Article: Study Finds Only a Minority of Mobile Health Apps Useful for Patient Engagement. Healthcare Informatics, February 19, 2016 http://ow.ly/eHF0304qyDu
2 White, W. Article: Building bridges to rare disease patients. Pharmaceutical Commerce, August 28, 2012 http://ow.ly/4E1Q304qAXN
3 2016 aHUS Global Poll, aHUS Alliance. Question # 38: What are your aHUS Info Sources? 37% – from Patient Organizations, 26% utilize Search Engines, 17% Rely on their Doctor, 20% Share Articles with their Medical Team (N=233, responses from 23 countries) http://ow.ly/1DA7303FoJx
4 Bronstein M and Kakkis, E. Article: Patients as key partners in rare disease drug development. Nature Reviews Drug Discovery, 22 July 2016 doi:10.1038/nrd.2016.133 http://ow.ly/MX6w304qQRp
5 Mavris M and LeCam Y. Involvement of Patient Organisations in Research and Development of Orphan Drugs for Rare Diseases in Europe. Mol Syndromol. 2012 Nov; 3(5): 237–243. 2012 Sep 13. doi: 10.1159/000342758 http://ow.ly/zfmT304rtE1
6 Robinson, R. Article: Patients and Patient Organizations Power Rare Disease Therapies. PharmaVOICE, February 2016 http://ow.ly/y7HW304qU88
7 Symonds, RP et al. Recruitment of ethnic minorities into cancer clinical trials: experience from the front lines. Br J Cancer 2012 Sep 25; 107(7): 1017–1021. 10.1038/bjc.2012.240 http://ow.ly/pXdk304qXuQ
8 José A Sacristán et al. Patient involvement in clinical research: Why, When, and How. Patient Prefer Adherence 2016; 10: 631–640. 2016 Apr 27. doi: 10.2147/PPA.S104259 http://ow.ly/j127304r8P0
Aymé, S et al. Empowerment of patients: lessons from the rare diseases community. The Lancet. Volume 371, No. 9629, p2048–2051, 14 June 2008 DOI: http://dx.doi.org/10.1016/S0140-6736(08)60875-2 http://ow.ly/QLkB304rE44
Barry, M and Edgman-Levitan, S. Article: Shared Decision Making — The Pinnacle of Patient-Centered Care. N Engl J Med 2012; 366:780-781March 1, 2012 DOI: 10.1056/NEJMp1109283 http://ow.ly/4lT7304rEBk
Explore the topic of “Patient Involvement” in Medical Literature: National Institutes of Health (NIH) at NCBI http://ow.ly/BxGD304srjL