Genetic Testing: Essential for the Future of US Healthcare System Healthcare in America is in a crisis. By 1996, more than 43 million Americans were uninsured. By 2010, the number is expected to rise to 57 million. These figures are already shocking, but they are even more so considering that the healthcare costs of the US total $1. 2 trillion or 15% of the gross national product (GNP) - the highest in the world. The rise in healthcare costs has been the result of a multitude of factors: aging of the population, skyrocketing prescription drug costs, and stricter healthcare legislation.
But perhaps the greatest contributor to increased costs has been the development of new biomedical technologies and the greater use of sophisticated medical procedures. The development of such technologies has not lead to increased costs as much as our dependence upon such technologies has. They have greatly improved our ability to diagnose and treat illnesses but we continue to use them excessively. As a result, we must find a way to reduce our use of such technologies and therefore reduce our overall health care expenditures. If we do not, healthcare costs will rise to $2. 18 trillion by 2008.
Therefore, the answer to reducing costs is to adopt a healthcare system based upon preventive medicine. With the rapid advances in medical science in the past half century, the healthcare system now has a new "molecular toolkit" at its disposal. Specifically, the availability of genetic testing has made it feasible to diagnose and determine the risk of disease before the actual onset, and therefore reduce our dependence upon costly medical procedures. Thus, to address our concerns of spiraling healthcare costs and inequity in healthcare distribution, I propose the widespread use of genetic testing in the US healthcare system. What is Genetic Testing? According to the National Human Genome Research Institute, "Genetic testing is the analysis of human DNA, RNA, chromosomes, protein, and certain metabolites in order to detect heritable disease-related genotypes, mutations, phenotypes, or karyotypes for clinical purposes. Prenatal, newborn and carrier screening, as well as testing in high risk families, are included.
Tests for metabolites are covered only when they are undertaken with high probability that an excess or deficiency of the metabolite indicates the presence of heritable mutations in single genes." As of now, nearly 400 genetic tests are currently being offered to the public. The Promise of Genetic Testing Increased information about genetics and disease susceptibility has led to an interest in genetic testing. Initially, medical genetics was devoted largely to the study of relatively rare single-gene or chromosomal disorders. But as result of advances in molecular medicine, genetics is now able to provide information about more common and accordingly more costly diseases such as Alzheimer's disease, cancer, and coronary artery disease. It is the predictive ability of genetic tests for these diseases that makes them especially intriguing in adopting a preventive medicine approach and reducing overall healthcare expenditures.
In Alzheimer's disease, there are three rare genetic syndromes that cause people to develop the disease before the age of sixty. These syndromes are caused by mutations in single genes call APP, PS 1, and PS 2. These mutated genes are usually inherited by one's parents and virtually guarantee the development of Alzheimer's disease. Genetic testing is currently available for these mutations and could prove to be extremely helpful in taking early action against the disease. Breast cancer, a very painful disease emotionally and physically for women, can also be detected with genetic testing.
The majority of cases of breast cancer are not the result of known inherited mutations, but rather from two breast cancer susceptibility genes: BRCA 1 and BRCA 2. Although the two genes are similar, BRCA 1 mutations lead to estrogen receptor negative breast cancer, whereas BRCA 2 mutations lead to estrogen receptor-positive breast cancer. Consequentially, the lifetime risk of developing breast cancer is substantially increased when an individuals has either mutation. The lifetime risk in the general population is 12%, whereas the risk for those with either mutation is 50 to 85%. Colorectal cancer, the second leading cause of cancer deaths in men and women in the US, can also be genetically determined with currently available genetic tests. There are four types of genetic syndromes that have been associated with colo rectal cancer: familial adenoma tous (FAP), attenuated FAP (AFAP), hereditary colo rectal cancer (HNPCC), familial colo rectal cancer (FCC).
In FAP and AFAP, there is a mutation in the APC gene that almost always develops into colo rectal cancer. HNPCC results from mutations in the hash 2 and h MLH 1 genes. FCC does not have a firm genetic basis that we know about and thus cannot be predicted using a genetic test. Genetic testing is especially intriguing for colo rectal cancer since there were over 130, 200 new cases and 56, 300 deaths in the year 2000 alone. Coronary artery disease (CAD), the number one killer in the US, can in some ways be detected by a genetic test. Researchers have identified more than 250 genes that may play a role in coronary artery disease.
The major genetic mutations that result in coronary artery disease are those in the low density lipoprotein receptor, apo lipoprotein E, apo lipoprotein B-100, apo lipoprotein (a), MTH FR, Cystathione B-, apo lipoprotein A 1, and glycoprotein IIb/IIIa. Although genetic test alone cannot determine the specific risk of heart disease, it can provide important additional information when done along with other diagnostic tests. The Economics of Genetic Testing Genetic testing provides important information for assessing the susceptibility of a disease. But will it save the healthcare system money if used? The answer is yes. Widespread genetic testing will provide the following economic benefit: more efficient allocation of resources by healthcare providers in the public and private sectors while significantly reducing overall healthcare costs. Genetic testing will provide healthcare providers with a greater knowledge of the needs of society.
With this information, providers can plan and more efficiently allocate resources based upon the demographic information obtained from genetic tests. Capital expenditures can be optimized by assessing the true needs from the data provided rather than relying upon information from the past. Furthermore, capital allocation for research and development can be more properly distributed for the same reasons. As a result, precious healthcare dollars can be targeted towards needs with a scientific justification. Genetic testing will also improve the allocation of future human capital. Training of future healthcare providers, such as doctors, nurses and technicians can be planned to maximize payback based on the information provided from genetic testing.
Decisions concerning human capital allocation can now be based upon a more accurate projection of need rather than upon the inefficiencies of the current system. Genetic testing can also significantly reduce healthcare costs if used as a form of preventive medicine. As we already discussed, genetic testing does not diagnose a disease, but rather determines the risk or susceptibility the individual has for a disease. Therefore, genetic tests used in conjunction with other means of preventive medicine could prove to be especially beneficial for the healthcare system.
Consider the following scenario. Person A, age 45 years goes to his primary physician for his annual check up. He mentions to his doctor that his 47 year-old brother was recently diagnosed with colon cancer and further reveals that his maternal uncle died of colon cancer in his 50 s. The clinician, aware of the benefits of genetic tests, suggests testing and sure enough, a mutation in the MLH 1 gene is discovered in person A.
As a result the doctor suggests that person A have an annual colonoscopy. With this early detection and screening, person A's likelihood of long survival increases significantly. This scenario presents a perfect example of how genetic testing can play an important role in preventive medicine and thus reduce healthcare costs. According to a report in the April 5, 2000 Journal of the National Cancer Institute, endoscopic screening for colo rectal cancer may save enough in future treatments costs to pay for itself. If a program of continuing screening had begun in 1993, endoscopic screening performed every five years would result in a net savings of $5 per person in the US, the researchers calculated. Furthermore, a study published in the October 2000 Annals of Internal Medicine concluded, "Colonoscopy represents a cost-effective means of screening for colo rectal cancer because it reduces mortality at relatively low incremental costs." Given this data, genetic testing improves the situation since it more accurately determines whether a patient should opt for more diagnostic tests.
Rather than wastefully screening everyone, genetic testing is able to determine who really needs more diagnostic tests. As we can see, genetic testing not only allows us to allocate our resources more efficiently, but also leads to a reduction in healthcare costs. Genetic testing can also be a relief for the healthcare system in the treatment of breast cancer. Researchers from Lahey's Risk Assessment Clinic concluded that genetics brings with it opportunities for improved medical care and will eventually save more lives and healthcare dollars. They specifically found that early detection of cancer in the form of a BRCA 1 or BRCA 2 mutations can result in cost savings of at least $10, 000 per patient as the cost of treating cancer grows. Furthermore, genetic testing coupled with prophylactic surgery or chemo prevention may decrease the incidence of cancer and therefore eliminate the need for the cost of treatment in its entirety.
Prophylactic surgery would also eliminate the need for periodic screening. With all this data considered, the Lahey study concluded that the incremental cost per life-year saved who carry the genetic mutation is between $336 to $1, 271. In addition to prophylactic surgery, genetic testing can also make way for more efficient use of mammography, which is also cost effective. In the Netherlands, the Gaiha - page 8 annual screening of women aged 50-69 years was estimated at a cost of $14, 800 per life year gained. Simulated models based on the United Kingdom estimate costs ranging from $4500 to $5500 per life year saved.
Estimates using data from the US Breast Cancer Detection Demonstration Project (BC DDP) showed that annual screening of women aged 55-65 years with physical examination and mammography yielded a marginal cost of $22, 000 per life year saved. Thus, genetic testing can efficiently reduce healthcare costs in the treatment of breast cancer as well. Now the question most people are asking: what about the expensive costs of genetic tests themselves? Now this question is valid, especially looking at things in the short-term. But we are concerned about changes that will have a long-term effect on the healthcare system.
Clearly, genetic testing saves money in the long term by more efficiently adopting a preventive medicine approach. But we must also look at the price of genetic tests in the long term. As genetic testing proves to be a more and more useful tool for fighting and predicting disease, the tests will surely become more widely used. As a result, more genetic test producers will enter the market place to account for the increased demand resulting in a lowering of price. Therefore, in the long term, genetic tests will become less expensive and as a result, more attractive. Improved Quality of Life Along with obvious economic improvements for the healthcare system, genetic tests also boast potential improvements in the overall quality of life.
Throughout this paper, the focus has been on genetic tests for diseases that have serious economic effects on the healthcare system. But genetic tests are essential for the proper diagnosis of rare single-gene disorders. As of now, scientists are aware of the specific mutations in numerous single-gene disorders. Unfortunately, they have been unable to develop treatments for any of these diseases.
Examples of such diseases are Tay-Sachs, cystic fibrosis, lateral sclerosis (ALS), Huntington's disease, , Wilms' tumor and Li-Fraumeni syndrome. Genetic testing allows doctors to not only categorically determine the onset of such a disease, but rather to determine the disease early in its progression. As a result, treatment steps can be taken quickly and improve the quality of life in this way. Furthermore, families of the victims can begin preparing for the onset of the disease earlier, and thus make dealing with the problem easier. Genetic testing, because it is a preventive medicine approach, improves quality of life by eliminating the mental and physical anguish associated with disease.
If an individual suffers through cancer and survives, it is not only he who had to deal with the trauma, but his entire family as well. In addition to emotional trauma, genetic testing also reduces the financial burden of families. In more ways than one, genetic testing clearly improves the quality of life and many members of the healthcare system. With this improved quality of life comes a more productive society. Workers are sick less often, spending less money on healthcare, and are more able to continue Gaiha - page 10 working and remain productive members of society.
Thus, in this way, genetic testing continues to have economic benefits. Implications for the Healthcare System In adopting genetic testing, we are able to efficiently allocate our resources and can do so while still cutting overall costs. But we cannot forget about the 43 million Americans without insurance. Reducing costs through genetic testing now allows us to provide insurance to these individuals. I am not certain whether they should be provided with insurance from the public or private sector, but at least the means for making such a decision are now available. Introducing genetic testing does have its drawbacks.
Many people are concerned that genetic testing will result in a kind of "genetic profiling" that will punish people for having certain genetics. This punishment may be in the form of denial of health insurance, life insurance or employment. In response to these claims, I stand in full support of the actions of our government. Genetic testing could have incredible benefits in terms of economic savings and improvement in quality of care, but this will all be meaningless if high-risk individuals become genetically discriminated. Therefore, I propose the swift ratification of bills in Congress outlawing genetic discrimination by insurance providers, and also the setting of premiums based upon genetic information. I am in full support of healthcare providers using the information to more efficiently allocate resources as I previously discussed, but not to treat individuals inequitably.
Conclusion Genetic testing needs to play an increasingly important role in the US healthcare system. As we have seen, genetic testing will allow healthcare providers to allocate resources more efficiently while still reducing overall healthcare expenditures. From these savings, healthcare reform can begin to take action in the form of providing uninsured individuals with health insurance options. It is the eventual hope that through the use of genetic testing and a more preventive medicine approach, that state of healthcare in the US will no longer be in crisis.