This week we are going to be focusing on genetic testing for adult onset diseases and what the consequences may be for consumers and families. It is important to note that 15 or 20 years ago, this wouldn’t have even been included in the course material of a class like FCS 5430, that is, there was no such thing as genetic testing for adult onset diseases, but new technology and new advances in science and medicine are now allowing physicians to suggest to consumers who may have a genetic predisposition for a disease, that perhaps they can confirm this by looking at their genes and looking at the gene mutations that they do or the don’t carry. This is an area within health that has been growing by leaps and bounds over the past few years, and there have been studies done on the social and behavorioal consequences of what this new technology is doing to consumers and families.
As I mentioned, as recently as 15-20 years ago, there was no such thing as genetic testing for diseases that you currently didn’t have. But, because of exploding technology, there has been a lot of information available out there in the popular media for consumers and families to try to digest and understand. On this slide, there are just a few covers of magazines that have highlighted the importance of genes in our health in determining our health, and highlighted information about how families and consumers can learn more about their genetic predisposition for certain diseases even before they actually have them.
Maybe you have a family history of breast cancer and you are concerned that that is a genetic risk and you want to be tested to see if you have a gene mutation that puts you at a higher risk of getting breast cancer, or maybe you have a family history of heart disease or Alzheimer’s, increasingly there is technology available that allows consumers to be tested for these adult-onset diseases long before they actually have them. This new technology has raised ethical questions, it has raised legal questions, and it has raised a series of social questions that families , consumers, and the larger society have to face. Most of the diseases that you can be tested for today are ones that have very serious consequences for your health and could lead to death if they went untreated. Huntington's disease, which has no current treatment. It is a genetic related disease, there is a test available for it, and if you tested positive of the gene mutation associated with it, you would essentially know that there was no treatment, and this is what you were going to die from. Would you want to know that you carry this gene mutation that increases your risk of contracting Alzheimer’s or increasing your risk of some other serious adult onset disease, and the psychological burden that you may be passing that risk onto your children. Would you want your spouse to know? Would you want your children to know? Would you want your employer to know? Would you want siblings to know, given that maybe that you tested negative, and your siblings could test positive for a gene mutation. What kinds of issues does this raise about the conversations you end up having with family members about health outcomes and the luck of the draw that one has in life. What kinds of concerns if any, does it raise with sharing this type of information with an employer or an insurance company, who might look at you differently because you now have revealed that you have an increased risk for say breast cancer. All of these questions don’t have easy answers and for many individuals, it is a very personal decision about number one, if you go through with genetic testing, and number two, how you deal with it it when you do get it. So, we are going to talk today about genetic testing and the issues that it raises more generally, and then it will be followed up with two subsequent lectures about genetic testing for two specific diseases, one being breast and ovarian cancer, and the other being Alzheimer’s.
So, what are the objectives.
Lets begin with a little background. The …was the catalyst for the vast majority of genetic tests that have been developed. It began in the 1990’s, and the goal was to map the …Coincided with…Created a lot of…By and large, the largest amount of money for this project has gone into the actual mapping of the human genome and trying to understand which genetic mutations may be associated with certain types of diseases. Certainly not all diseases have their roots in genetics, but some do, others are clearly environmental, and some are a mixture of both. SO, the focus of this project was to try and understand what genes contribute to what types of diseases for humans. But, a small amount of money was set aside for what is called the…It is this unit that has funded much of the research to look at how consumers and families process genetic information and what these studies might tell us about the role that genetic counselors should play in terms of helping families understand genetic test results, and the questions that should be raised and pondered by families and consumers before they actually make the decision about whether to undergo genetic testing.
This slide gives you a sampling of some diseases for which there are currently tests available. As I mentioned earlier, Huntington’s disease is an incurable neuro degenerative genetic disorder that affects muscle coordination and cognitive functioning. It typical onset is in middle age, but it can actually begin at any age. The disease is caused by a dominant mutation in a gene called the Huntington gene, and this means because it is a dominant mutation, that any child of an affected parent has a 50% risk of inheriting the disease. In most circumstances, the symptoms begin in early middle age, between say 35 and 45, and life expectancy is considerably reduced by Huntington’s disease. Most individuals who have it do not live past age 50. Gene mutation that increases ones cholesterol levels to very high levels. It is treatable through diet and medication, but left untreated can lead to life threatening events such as heart attacks. Genetic blood disorder. Characterized by red blood cells that assume a very unusual shape, and sickle like shape, which block the capillaries and threaten the viability of organs. The symptoms associated with this disease are a lot of pain, and organ damage, and typically, the average life expectancy of someone with sickle cell disease is less than 50 years. Melanoma is a type of skin cancer, very serious if left untreated, can result in death, and if not caught early can also result in death. The general treatment for Melanoma is to remove the affected area, and if the area is large, it is then followed by either chemotherapy and radiation, or focused radiation. Colon cancer can be genetic or non genetic, but there is a gene mutation associated with certain types of colon cancer. If it is diagnosed at an early stage, it is very treatable, if it is diagnosed at late onset stages, it is quite deadly. As you can see, there are a whole range of diseases for which genetic tests currently exist. Some of them are very serious life-threatening diseases, and others are less serious, but nonetheless potentially debilitating.
One of the big questions that is being asked by ethicists and by those interested in how we use this new technology, is … should everyone be tested for a whole battery of gene mutations, or should this be done quite selectively. Currently, there are a number of recommendations. Say an individual has been diagnosed with colon cancer, and there is a family history, and therefore it might be helpful to know if the family history of colon cancer was really because of a gene mutation that this individual had. So, it would be done to see if this individual had a genetic predisposition to the disease. A family where there has been a history of a certain disease, they might feel it is important to see whether or not they carry the genetic risk factor.For more serious diseases where there are preventive measures that can be taken, the recommendation is stronger than in situations where the disease is not life-threatening, or where the disease may be life threatening, but there is no type of treatment for it. And how costly this test is. Tests for the BRCA1 and BRCA2 gene can run upwards of $2,500 per test, so this is not an undertaking that is embraced lightly given the financial consequences. What their personality is like, what their psychological profile is like, whether they can understand and process the information and act on it in a rational manner. So, all of these are considerations for who should undergo genetic testing.
There is some information out there in terms of surveys that have been done. That is they were currently healthy, they were given the hypothetical situation if a genetic test were available today that would allow you to know whether or not you carried a gene mutation for a very serious adult onset disease, would you want to undergo this test. When a similar poll was done regarding colon cancer, … clearly, consumers and families are more predisposed to this new technology if they know that it is going to be addressing a treatable disease. That is those who live in families where they have a significant family history of the disease. So, the first two polls tell us about people’s attitudes in a hypothetical situation, and the last bit of information tells us what people do behaviorally in reality. So, in reality, about 50% of the people when given the information to take a genetic test when they have a significant family history of the disease in questions, actually follow through and get the genetic test done.
There are several issues that those in the social sciences worry about and are concerned about with respect to how people are responding as this technology becomes more commonplace. The hope is that in those instances where there are actions that consumers can take if they have access to this knowledge, that this will encourage them to embrace more aggressive screening behaviors. SO in the case of genetic testing for the breast cancer gene mutation, the hope would be that if someone underwent this genetic testing that they might engage in more aggressive screening behaviors such as having mammograms done on a regular basis, seeing your primary physician on a regular basis and having them screening for breast lumps and such. So the hope, in a positive vein, is that genetic test results would be used to enhance screening behaviors, but we actually don’t know whether that is true or not. We don’t know whether consumers and families learn these results and then behave like ostriches so to speak and put their heads in the sand, or whether they actually step forward and say this is something that I need to do something about. So, this is an unanswered behavioral questions that social scientists have been concerned about. We are now living in an age where it is possible to learn say as a 25-year old, that you carry the gene mutation for Huntington’s Disease, and that you in all likelihood will be dead by the time that you are 40 or 50 years old. How does that translate into your emotional well being, how does it affect your psychological well being, and are there things that we, particularly genetic counselors should be doing, to help individuals process this information and understand what it is telling them about their risks. For example, say that you have 3 siblings who are all tested for the genetic predisposition for Alzheimer’s disease. 2 of those siblings test negative and 1 of them tests positive. If they share this information with each other, how does this affect their family dynamics and their family relationships with their siblings, how does it affect their relationships with their spouses, and with their own children. These are all things that we don’t know much about and it would be good to know more about, so that doctors and genetic counselors could better inform people about the consequences of genetic testing.If you test positively for a serious adult-onset disease gene mutation, and that information is shared with you employer and/or your health insurance provider, might you be dismissed from your place of employment because it looks like you are going to cost your employer more in terms of insurance down the road. Might your health insurance drop you because now you have become a high risk person to insure? So, there are concerns about discrimination, there are concerns about privacy, who should have access to this information and who shouldn’t, Oftentimes, health insurance co’s would say we should have access to this information because then we could help the individual engage in more effective screening behaviors. Then there are concerns by privacy advocates that if insurance co’s do have access to this type of information, that they may drop high risk individuals from their policies. So, it is very much a two-edged sword, and again, we don’t know behaviorally wheat people are doing. So, these are all ethical legal and social worries that researchers within the social sciences have been trying to tackle in recent years and that you are going to learn more about in the coming two lectures.
As such, we don’t know much about what it implies for families and consumers. In the 1990’sThat has focused on the ethical, legal, and social consequences has been largely supported by ELSI, part of the Human Genome Project funded by the federal government. In the next two lectures we are going to look at two case studies, one being genetic testing that has been done here at the University of Utah, in association with the discovery of the BRCA1 gene mutation that was discovered here, and the second case study being associated with the APOE4 gene mutation that is associated with an elevated risk of contracting Alzheimer’s Disease and that study was based at Boston University, but done in collaboration with researchers at several universities around the country.
Consequences of Genetic Testing for Adult-Onset Diseases
Technology that allows you to be tested to assess your genetic predisposition for an adult-onset disease Would you want to know when and how you were probably going to die? What is there is no current treatment? What if you could pass your genetic risk on to your children? Who else (if anyone) would you want to know about your genetic test results?
Objectives Outline major consumer/family issues related to genetic susceptibility and testing for adult-onset diseases Describe some general findings related to two studies (one done at the UofU)
Human Genome Project Mapping the entire human genome Establishment of the National Center for Human Genome Research (NCHGR) Publicity of Disease-Related Genes The “Social Conscience of NCHGR” – ELSI Ethical, Legal, and Social Implications of Genetic Testing
Selected Diseases for Which Genetic Tests Currently Exist Huntington Disease Familial Hypercholesterolemia Sickle-Cell Trait Familial Melanoma Colon Cancer Breast Cancer (BRCA1 & BRCA2) Alzheimer’s (APOE4)
Who should undergo testing? Predictive gene testing Healthy persons in at-risk families Depends on the disease Depends on the gene mutation Depends on the person
Who would undergo predictive testing? TIME/CNN Poll – 50% would take a predictive test. Utah Poll – If a treatable disease (colon cancer), increases to 80%. High Risk Families – if given information about testing, 50-60% are tested.
Why are people concerned about testing and test results? Screening Behaviors Psychological and emotional worries Effects on relationships and family Effects on privacy and insurance/employer discrimination
Reviewing Genetic testing for adult onset diseases is a relatively new technology Sparked by the Human Genome Project Social science research supported by ELSI Range of serious adult-onset diseases that can now be tested for Raises numerous questions about how people process this information and the consequences for individual and family well-being