Treatment for rare diseases- an ethical imperative

By Dr. Nalini Kaushik, 

World Rare Disease Day – 28th Feb: COVID-19 pandemic exposed the world to ethical imperatives of equitable access to health products. While this was a demand-based shift there are always some vulnerable populations and groups that remain deprived of the progresses of health programs.

One such group is that of people suffering from rare diseases. Although, India is yet to provide a definite meaning to “rare diseases”, the World Health Organization defines it as a debilitating lifelong disease or disorder condition with a prevalence of 1 or less, per 1000 population. Owing to the common denominator of all rare diseases, that is, the infrequency of their occurrence has resulted in demand-supply mismatch. Naturally, the end result is faced by the patients in form of “diagnostic odyssey” and “treatment odyssey”.

When it comes to rare diseases each patient is essential in order to understand their condition and provisioning them the customised treatments. Affordability being the cornerstone of access it is also a huge barrier for families seeking support for the treatment. For instance, a recent waiver of import duty of 23 per cent and 12 per cent GST that added to Rs 6 crore to the overall treatment cost of 16 crore for a five-month-old patient of Spinal Muscular Atrophy became paramount for the patient’s survival. However, not all rare diseases patients in India receive a similar attention and such selective response reinforces the pressing need of rare diseases policy.

Diagnostic and Treatment Odyssey- a cascade of complex problem

Rare diseases impact a relatively small cohort of population which makes them a cost intensive category for pharmaceutical companies as well as the national governments. Most being genetic in nature, manifesting at different age groups the medical journey of each patient (and their families) becomes unique and equally daunting. From the initial disease recognition or onset of symptoms to a final diagnosis there are series of referrals to several specialists and a plethora of clinical tests. This journey can be prolonged posing serious consequences for the patients’ health. Even when the disease is diagnosed the cost intensive treatments/therapies puts a huge burden on the patients. With minimal and no (alternative) funding support there are many patients who succumb to death or have no choice but to drop their treatment in between.

Delayed diagnosis is a peculiar situation of rare diseases patients in India as well. Owing to their distinct nature rare diseases require trained clinical gene experts for early diagnosis and depends largely on the patient’s ability to afford the expensive tests. However, this intersection of affordability, availability and accessibility makes the journey challenging for the patients.

Progression towards a collective action

In the past decade, the rare diseases community in India has witnessed a significant transition towards policy initiation owing to the consistent civil society’s movement, support from therapy providers and medical fraternity with the patient voice being central to all the policy and judicial conversations. While this shifted the needle towards formulation of draft national rare diseases policy, however, the final policy is yet to see light of the day.

Due to an absence of structured governmental guidance on rare diseases in India there are many rare diseases patients who have resorted to judicial interventions to reinforce their right to health. As recent as early February 2021, two children suffering from Hunter’s disease approached the Delhi High Court seeking direction for treatment provision. However, owing to the drawn-out process many patients succumb to death while awaiting their treatments. The death of a three-year old Gaucher disease patient from Rajasthan in January 2021 is a case in point.

The initiatives in form of “people’s push” were only a small part towards addressing the pieces of a much bigger – and deep-seated – problems of the rare diseases ecosystem; resolution of which lies in a government led rare diseases policy. A policy embedded in inter-sectoral as well as stakeholder support is crucial in the given landscape.

Firstly, it would help bring together the medical fraternity that is key in building awareness within their own community as well as amongst the patients in form of prenatal screening. A success in form of swift referral mechanisms would save the patients from cascade of misery and suffering. Secondly, to build a momentum at the state level, guidance from the central government would be an effective tool that has the potential to facilitate strong coordination amongst the stakeholders. Lastly, alternate funding mechanism being a crucial indicator for accessing treatment for rare diseases; a well-planned policy focused on the role of public sector units, CSR funds etc would be a remarkable beginning point.

Balanced approach

Managing health complexities such as rare diseases amidst COVID-19 pandemic is a daunting socio-economic task. However, it is pertinent to re-address focus on all health areas and not choose areas of primacy for policy action. The Economic Survey 2021 clearly cautions about the “saliency bias” where a policy may over-weigh a recent phenomenon neglecting other areas that may require equal attention. Therefore, tackling rare diseases is as important as keeping an adequate focus on the COVID-19 damage since the principles of policy making process cannot be only based upon the factors such as high or the quantitative prevalence of a disease category.

(The author is a medically trained public policy professional. Currently, she is engaged as Head- Policy and Partnerships at Aequitas Consulting. Views expressed are personal and do not reflect the official position or policy of the Financial Express Online.)