The Lifetime Economic Burden of Monogenic Diseases And The Social Motivations For Their Treatment With Genetic Therapy

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Cummings, James P
CRISPR; Direct social costs; Genetic disease; Net present value; Rare disease
thesis / dissertation description
The purpose of this thesis is to investigate the social cost motivations associated with paying for genetic therapies at the beginning of life for monogenic diseases from various perspectives including the social perspective and the perspective of an average member of the US population. The findings were generated by collecting direct medical cost data (in current USD) relevant to nine common monogenic diseases (Cystic Fibrosis, Sickle Cell Disease, Duchenne Muscular Dystrophy, Hemophilia A, Huntington’s Disease, Polycystic Kidney Disease, Gaucher Disease, Hereditary Angioedema, and Pompe Disease) to conduct a Monte Carlo and Net Present Value analysis to generate robust lifetime cost distributions for each disease. One major finding of this research is that if an individual is known to have one of theses monogenic diseases then the direct social costs - the total cost of treatment when discounted down to a single value at year zero of life - based on direct medical costs using a 5% discount rate for a gene therapy which would bring about the removal of lifetime direct medical costs could be as high as $3,568,077 (SD $599,461) for Hemophilia A or as low as $30,467 (SD $21,164) for Huntington's syndrome. Other discount rates are also included in the models. Another major finding is that the direct social cost at year zero of life from the social perspective using a 5% discount rate for a gene therapy which would remove any risk of developing symptoms of, and therefore remove the direct medical costs for, all the diseases analyzed should be $496. Direct social cost should only increase as an individual's life continues, as explained within the thesis, so these cost figures represent very conservative estimates. It is shown that the direct social cost at the beginning of life for gene therapy, for individuals who are known to have monogenic disease, can be in the millions of dollars. It is also shown that direct social cost at the beginning of life for the removal of risk of monogenic disease in a member of the general US population should only be a few hundred dollars. These conclusions can be interpreted to show that there should be a high direct social benefit for such therapies when applied to the population of individuals who are at high risk of manifesting one of these monogenic diseases, but there should be relatively low direct social benefit for the removal of the risks of manifesting one of these diseases among the general US population.