Developing Biobanking Policy with an Oliver Twist: Addressing the Needs of Orphan and Neglected Diseases

• Author: Brian Su
• Pages: 771-809

Page 771

Brian Su: I am deeply grateful to Prof. Michael Malinowski for his invaluable guidance and assistance in the development of this article. Also, much thanks to my family and friends for their support.

[N]ow that he was enveloped in the old calico robes, which had grown yellow in the same service, he was badged and ticketed, and fell into his place at once . . . the orphan of a workhousethe humble half-starved drudgeto be cuffed and buffeted through the world,despised by all, and pitied by none.¹ Page 772

Introduction

Centuries and an ocean removed from the life of a Dickensian orphan, Megan Crowley was born in Massachusetts on December 16, 1996 to a loving family who showered her with affection. According to her mother Aileen, "From the moment we held Megan we knew she was special and that she would always be our little princess. We had no idea at the time, however, just how special or how brave Megan would become in so short a time."²

Megan, along with her younger brother Patrick, had been born with a rare, hereditary muscular disorder, Pompe disease, which degenerates muscle tissues and interferes with the respiratory and cardiovascular systems.³ The debilitating effects of Pompe make even the most basic efforts impossible: Megan and Patrick cannot "talk, swallow, walk, breathe or eat on their own."⁴ While the infantile-onset forms of the disease are often fatal before the first Page 773 year,⁵ the two siblings have beaten the odds though they live with twenty-four hour care and are closely monitored by a team of doctors.⁶

Pompe is considered an "orphan disease," one which affects less than 200,000 individuals in the United States.⁷ While strides have been made in developing enzyme replacement treatments for Pompe, John Crowley, Megan and Patrick's father, works tirelessly to find a cure"Deep down, I know in five to 10 years, no kid will ever suffer from this. If all I do in life is play some part to find a cure, then that's OK."⁸ In fact, the first steps to finding a cure for Pompe and a host of other diseases may lie with recent developments in bioinformatics and biobanking.⁹

As the tools of science and technology have improved exponentially in recent decades, two of the leading fields, information technology and genomics, have merged to form the forefront of biomedical technology: bioinformatics. This promising new field involves "a biological information processing system-comprising computers, databases, on-line networking, and specialized software-that has given birth to a new research paradigm in which genotypic and phenotypic information is 'mined' to identify genes, to model protein structure, and to discover drug targets."¹⁰ Advances in the field have "made it possible to extract exponentially more information from any given [genetic] sample and to process voluminous amounts of data."¹¹ Page 774

This field has prompted demand for the creation of biobanks, "large collections of human tissue samples . . . applying 'bioinformatics' to genomics research."¹² These biobanks have become a powerful tool to aid doctors and researchers in "translat[ing] this rambling string of letters that constitute the genome map into medical meaning."¹³

Because biobanks require large amounts of genetic samples as research assets, these tissues have become inherently valuable, not only to researchers but also to tissue donors from whom the samples are obtained. Donors afflicted with diseases and afflictions previously disregarded by mainstream researchers have been dealt a powerful card in the form of their own tissues. If a policy framework was established to promote altruistic biobanking practices, donors may use their own tissues as leverage to acquire a voice in pharmaceutical research and development efforts, steering projects to target orphaned and neglected diseases.

However, while humanity may possess the scientific wherewithal to pursue biobanking, a coherent policy framework to encourage responsible and beneficial biobank development is lacking. Indeed, it has been noted that, in general, biotechnology "is likely to be an area of increasing importance, one in which both public understanding and public policy lag well behind the rapid advance of technological developments."¹⁴ Thus we are presented with a unique opportunity to achieve previously unattainable health policy objectives through incentives to encourage responsible biobanking.

Incentives are necessary because market forces will likely drive commercial pharmaceuticals to focus on diseases both dire and profitable, an approach which leaves many other disease groups by the wayside.¹⁵ Thus policy, which has been developed to promote the study of orphan and neglected diseases in industrialized countries, could be expanded internationally to address similarly situated diseases that also fall outside the realm of these commercial interests.

This paper proposes a policy encouraging the development of biobanks to aid in the research of neglected ailments and orphan diseases. This policy would advance initiatives promoting the Page 775 organization of disease groups to stimulate research and raise funds, as well as grant incentives similar to those offered by the Orphan Drug Act, a Congressional enactment designed to encourage development of treatments for "rare diseases and conditions."¹⁶

Section I provides background on biobanking efforts, including those championing the research of orphan and neglected diseases. Section II discusses why some diseases will necessarily fall outside the realm of commercial interest. Section III proposes policy solutions and incentives which promote the development of biobanks and encourage research of neglected ailments.

I Biobanking Efforts Domestically and Abroad

Biobanks provide the means to process voluminous amounts of genetic samples and corresponding medical data, weaving a complete genotypical and phenotypical snapshot of a sampled population and creating an essential resource for researchers. However, many previous biobanking efforts are no longer useful due to the failure of organizers to collect medical records and obtain adequate informed consent from donors in order to ethically broaden the field of research objectives for which donated tissues may be used.¹⁷ Coupled with trends in biomedical science, the demand for new biobanks has been greatly enhanced. The accompanying call for genetic and medical information to fill these biobanks has never been greater.¹⁸ The most widely implemented biobanks, unprecedented in the number of donor samples they collect, are primarily governmental, commercial-governmental, or commercial-academic collaborations that promise little, if any, return for the efforts of their volunteers.¹⁹ Page 776

By contrast, disease groups previously left out of the genomics revolution have initiated grassroots efforts using biobanks as a means to leverage the value of their own genetic samples and medical records. These efforts have stimulated research that promises tangible returns for donors by isolating the genes which cause the disorder and leading to possible treatments.²⁰

England's UK Biobank is one of the world's flagship initiatives with up to half a million projected participants between the ages of forty-five and sixty-nine. It is, by far, the largest biobanking organization with plans to include about 500,000 participants.²¹ This is unsurprising given its considerable support: among its backers include British governmental entities such as UK Medical Research and the Department of Health, as well as the Wellcome Trust, a biomedical research charity organization. The UK Biobank hopes to correlate urine and blood samples with lifestyle data to achieve "a greater understanding of genetic, lifestyle and environmental factors in health and disease . . . ."²² Page 777

Similarly, the wholly governmental Estonian Genome Project has cataloged 10,000 samples to date with the aim of making "it possible to carry out research both in Estonia and outside to find links between genes, environmental factors and common diseases . . . and to apply the information gained from research in making new discoveries in genomics and epidemiology, which eventually lead to increasing the efficiency of health care."²³

While Iceland has joined England and Estonia in the biobanking field, it has done so with commercial considerations expressly in mind, having partnered with deCODE Genetics, a private, Reykjavik-based biopharmaceutical company. As of mid- 2003, the Icelandic project has cataloged medical records and genetic tissue from almost 100,000 people, or almost half of the nation's adult population. The aim of deCODE is: to identify the genetic causes of common diseases and to apply this information to develop new drugs and diagnostic tools. Built upon an understanding of the basic biology of human disease, these products are aimed at diagnosing and counteracting the...