Sample Health Care Essays on The Policy Makers, Public Health Experts and the Biomedical Industry

Executive Summary/Purpose


Orphan diseases are highly uncommon; however, there is a possibility that one out of fifteen individuals around the world is presenting with a rare disease (WHO, 2013). Over the years;however, rare diseases have been accorded less attention by public health experts as well as policy makers (Wise, 2012). While patients presenting with rare diseases can be rater as fewer compared to those with common diseases, it is still important to note that collectively, these patients averagely accounts for over  350 million people worldwide (Quinn et al., 2020). This is an indication that orphan diseases should also be given higher priority in a similar manner to common diseases. In essence, the laxity by the biomedical industry, public health experts and policy makers to give significant attention to rare diseases means that most of the people around the world who are likely to be affected by orphan disease may not get appropriate treatment intervention that is necessary to improve their health and well being respectively. As emphasized by IFPMA (2017), expertise related to orphan diseases remains limited because these conditions are often assumed to be rare. For instance, averagely 95% of orphan diseases still lacks a treatment option (IFPMA, 2017). This shows that despite an increased focus towards rare diseases, they remain neglected.

The following memorandum focuses on how to improve treatments for rare diseases, which continues to be a major challenge for affected patients all over the world.  To date, IFPMA (2017), for instance, mentions that there is still inadequate research when it comes to rare diseases and appropriate therapeutic interventions. In addition, lack of significant research that focuses on orphan diseases is also contributing to laggardness in the process of developing clinical guidelines that are evidence based with the aim of informing best practices. On the same note, dissimilar regulatory processes in different regions all over the world means that even if a drug is developed or exists, it may not be accessible in every country. As such, this memorandum will focus attention on:

  1. Identifying gaps in recent studies related to orphan diseases that still need to be addressed in order to achieve suitable therapeutic interventions for rare diseases.
  2. Critically examining and recommending an effective way forward to accelerate the development of better treatments for rare diseases.




Analysis for Executive Memorandum


Compared to common diseases, orphan diseases are still seen as rare, and as such, not much attention is given to these diseases by the biomedical industry, public health experts and policy makers respectively. For example,  Walkowiak and Domaradzki (2020) explains that physicians still lack access to educational opportunities and informational resources to better understand and address rare diseases. As reiterated by Wise (2012), such lack of access to educational opportunities as well as informational resources on rare diseases is affecting doctors’ awareness of rare conditions, and in turn, prevents patients presenting with rare diseases from receiving appropriate treatment for their conditions.  Conversely, IFPMA (2017), reports that treatment for most of orphan diseases remain unavailable. Patients also lack necessary support as well as information to help the cope appropriately with their diagnosis as well as condition (IFPMA, 2017). In this respect, it is imperative to encourage public health experts, policy makers and the biomedical industry to work collaboratively in terms of not only supporting, but also working towards carrying out research and developing drugs for orphan diseases.  As further pointed out by the US Food and Drug Administration (2019), an in-depth  understanding of the natural history of rare diseases can help the various sponsors define the disease population, thus contributing to the development of more effective therapeutic intervention for rare conditions.


Supporting argument one 


Despite significant scientific development today,  studies show that over 90% of orphan diseases do not have effective treatment (Kaufmann, Pariser & Austin, 2018). Out of the 7,000 orphan diseases assumed to affect humans, only less than 5 % have  potent treatment (Kaufmann et al., 2018). In order to assist the over 350 million (Quinn et al., 2020) individuals presenting with orphan diseases globally, it is important for policy makers, public health experts and the biomedical industry to consider accelerating the process of therapy development with the aim of helping these patients  to access better treatments. However, studies giving attention on how to hasten the development of therapeutic treatments for rare diseases are also pointing out major impediments to achieving such a goal. For example, DiMasi, Grabowski and Hansen (2016) observes that developing and introducing a new drug into the marketplace can take a longer duration and is costly. As further supported by Kaufmann et al. (2018), new drugs for rare diseases are more likely to attract high costs because the market for such drugs, once approved are relatively small, which in turn, restricts expectations for significant return on investment. In addition, innovative technologies that include, for instance, gene therapy tend to attract high manufacturing costs. For certain therapies such as oligos or aptamers, it is often a challenge to reach all patients presenting with orphan diseases because of mutational heterogeneity associated with most conditions (Kaufmann et al., 2018). Long duration in developing new drugs for rare diseases also raises concerns due to many factors that are taken into consideration and range from, example, natural history data to deciding on location for trial recruitment as well as finding trial participants. Such delays are likely to increase costs  as well as loss of lives. In cases where the rare disease is life-threatening, access to a new treatment that is more effective can help to change the course of such a disease in terms of reducing morbidity as well as mortality rate. Because of the cost, time as well as risks linked to therapy development, academic, researchers and developers in the biomedical industry are more likely to focus their attention on a limited number of rare diseases. This is because of the stiff competition for trial participants and the rush to be the first to secure marketing authorizations.


Supporting argument two

 According to Cox (2018);Gobburu and Pastoor (2016) , statutory standards that targets the approval of rare drugs aimed at rare disease are similar to those applied for common diseases. In this regard, greater emphasis is often given to safety as well as efficacy evidence emanating from trials that are properly controlled. However, there are some instances where it might not be possible to meet the required standards in the process of developing rare drugs (Clarke et al., 2014; Cox, 2018; Cremers & Aronson, 2017 ). Crow et al. (2018) and Djurisic et al.,(2017) further observes that logistical challenges in the process of carrying out clinical trials are also caused by the inappropriate manner in which a number of therapies aimed at healthy controls are administered. On the other end of the spectrum, some countries especially in the West such as the United States have a well defined regulatory policy for rare drug development as evident under the Orphan Drug Act of 1983 . However, in certain countries that include, for example, China, such regulatory policy that targets orphan drug development is still evolving. As a result, a significant number of patients presenting with orphan diseases in a country such as China still seek international treatments  that have not been approved in their own country (Cheng & Xie, 2017). In addition, Chen and Xie (2017) also explains that due to lack of a clearly defined regulatory process targeting approval for development of rare diseases treatments, pharmaceutical firms remain reluctant to pursue orphan disease drug development as evident in a country such as China that until now does not have a regulatory policy that is well defined.

Opposing argument one 

While Kaufmann et al. (2018) opines that  over 90% of rare diseases lack effective treatment, they also bring into attention new data as well as genetic technologies that have contributed to the development of new treatments for a number of rare diseases. In essence, such transformation can act as a foundation for accelerating the development of more effective treatments for orphan diseases.


However, achieving such an endeavor remains elusive given the long duration and high cost associated with introducing a new drug into the market as mentioned by (DiMasi et al., 2016). For example, Kaufmann et al. (2018), on their part, also raises concerns that it is almost impossible to overcome high development costs for orphan diseases because the market for new drugs targeting treatment for rare diseases even if approved is relatively small and could limit return-on investment for sponsor, thus their laxity to venture into such an endeavor.

Opposing Argument two 

Despite the existence of cases where meeting the required standards in the process of developing new drugs may not be probable, Gobburu and Pastoor (2016); Kempf, Goldsmith and Temple (2018), brings to attention  the use of external historical control data that describes the natural history of a rare condition. In efforts to demonstrate how effective the use of historical data is, a study as observed by Nickel et al. (2018) that was developed specifically for cerliponase alfa. In essence, the study depended largely on  close collaboration as well as communication between the sponsor and regulatory authorities. During the study, a number of methodological as well as statistical concerns were successively pointed out and dealt with accordingly.


While there are situations external historical control data that provides the natural history of a rare disease can help to inform appropriate standards in the process of developing therapeutic treatments for orphan diseases, it is still crucial note that lack of a well developed regulatory policy can lead to the propagation of false medical claims as pointed out by Chen and Xie (2017).

Conclusion and Recommendations

The discourse by lead actors in a wide range of therapeutic areas related to orphan diseases  bring into attention important strategies that can improve the development and foster regulatory approval of effective treatments for rare diseases. In essence, these strategies emphasize more on how to prevent challenges that can hinder the development of new drugs that are necessary to improve  efficient treatment of  orphan diseases. The effective utilization of natural history data as well as the generation of external historical control data, for example,  has been proved to play an important role in addressing a number of challenges that grapple the area of rare disease such as  poor understanding of the disease, fewer number of patients and lack of a properly developed endpoints or biomarkers. In addition, future efforts should also  emphasize on not only harmonizing methodologies, but also endeavor to develop standard guidelines that provides the basis for extrapolating data right from the source to target populations as well as enhance access to drugs by patients presenting with rare diseases all over the world. Similarly, greater attention should also shift towards  building of a close work relationship between sponsors and regulatory authorities with the aim of addressing methodological as well as statistical challenges more faster, particularly in the process of clinical development, which is necessary in streamlining process linked to regulatory approval. On another note, despite a number of countries lacking a well defined regulatory policy in a similar manner to a country such as the United States due to differences that could be political, economic or cultural, such countries can still make use of data in their possession for purposes of developing aggregated data that encompasses diseases and genetic information. Further, countries that still do not have a well defined regulatory policy should also focus more on establishing a clear definition for orphan diseases, putting in place an approval pathway for orphan drugs that have been imported, developing programs for patients with orphan diseases and soliciting for government support in that regard as well as using policy to influence research in rare disease.



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