Opinion, Berkeley Blogs

Thinking about personalized medicine, and the contribution of your own genes to your health

By Jasper Rine

To the 2010 entering class of the College of Letters and Science, welcome to the first official blog for the On the Same Page program and my first blog entry ever. By now you certainly are aware that the topic of this year’s program is Personalized Medicine. Whether you have chosen to provide a DNA sample or not, you are part of the first experiment of its kind: an experiment in education exploring whether having some personal knowledge about your genetic make up will heighten your interest in, and connection to the subject.  We in the college of Letters and Science believe that the potential benefits and vexing issues surrounding personalized medicine will be a defining challenge in your lives, in our lives, and for our nation’s economy.  The exploding cost of health care (currently 17% of our gross national product and increasing each year), if left unchecked, threatens us with having to choose between bankruptcy and medical rationing. It is possible that, if properly implemented, personalized medicine can help address this pressing problem while at the same time markedly improving the quality and length of our lives.

The name “personalized medicine", though commonly used in the press, is at least somewhat misleading since all medicine is at some level personal.  You don’t expect to go to your doctor and have him or her say, “Well, today is Tuesday, and I prescribe the following for all my Tuesday patients…..”.

To cut to the essence, personalized medicine refers to the medical advice or treatment that is directed to you as an individual that might differ from the treatment of others who share the same symptoms or diagnosis.  There are several ways in which you might differ from other similar patients. Your personal genetic make up is only one, but it is an important one and the subject of deep interest across a wide range of academic disciplines.

Our program this year focuses on the major influence that genetics will play on personalized medicine.  We are at an amazing point in the history of science and technology.  Just 9 years ago, the complete deciphering of the first reference human genome sequence, at a cost of about $1.5 billion dollars, was widely heralded as a major scientific breakthrough of our age. Now, thanks to advances in technology, many of them devised within 50 miles of the Berkeley campus, many of you may choose to have your entire genome sequenced in the next few years for less than the cost of laptop computer.  So what can you expect to learn from your genome sequence?

You and I have a genome, the word that refers to the collection of all our genes, which has about 3 billion genetic characters, written in the language of DNA sequence.  Although you have probably heard stories in the news about how a scientist has discovered a gene for this or that condition, you will learn that such headlines are scientifically inaccurate nonsense.  We all have the same genes, but the interesting thing about our genes is that the same gene can vary in its DNA sequence between two people.  Of these 3 billion characters in our sequence, on average, 3 million (0.1%) are different between any two people.  In other words, the fascinating differences between any two people result from about one part per thousand of genetic differences between the two, as well as by cultural and social differences, and by the interaction of genetic differences with the environment.  A small subset of these 3 million differences have a direct impact on health, and the goal of this year’s On the Same Page program is to help you understand how to think about your unique genetic identity and the contribution of your own genes to your health.

Your individual genome sequence is the most personal thing that will ever be uniquely yours.  In my opinion, you should take extra precautions to insure that your individual genetic make up, as deduced from your genome sequence, remains personal and private. That is one reason why this year’s On the Same Page program looks at only 3 variants of the 3 million genetic variants that, in aggregate, are uniquely yours. We have taken numerous precautions to ensure that that the data from your three genes is coded in such a way that only you can find the data that comes from you.  In addition, we have chosen to look at only common gene variants that are shared among millions of people, yet have a measure of information you may find interesting.

The impacts of our genes on our health vary widely from gene to gene and from gene variant to variant.  In some cases, the impact is strongly deterministic, such as the genetic differences that control our blood type and some disease states.  In other cases, the differences affect only your likelihood of developing a condition or disease, and in some of these instances the influence depends very strongly upon environmental factors.  The three variants that we are testing in those of you that provide samples are of the third type, and are examples of how knowing a little something about your genes can let you do something that is likely to enhance your well being.

Because gene variants, in most cases, influence or result in a predisposition to a condition, personal genetic information often provides a little knowledge laced with dose of uncertainty. Effective utilization of this knowledge requires a comfort with probability and statistics, two branches of mathematics that are ever more important in this information age that we live in.

For years, physicians have been our first line of defense in dealing with medical problems.  In the case of genetics, genetic counselors have also served very important roles.  However, the number of genetic counselors produced annually by all the training programs is not nearly enough to help each of us understand the full range of our individual genetic variation, and doctors are ever more pressured to do more with less and spend less time per patient.  Already the internet has been a great boon to patients who often show up at a doctor’s office with valuable information they have collected from websites, and sometimes with misinformation.  Many of us in biomedical research believe that it will become increasingly important that we, as patients, become more knowledgeable participants in our own heath care.  In the age of personalized medicine that means we may want to become amateur geneticists.  Our program will provide a first small step in the direction, and introduce you to some of the remarkable resources that scientists use every day in our efforts to understand personal genetic variation.

You may have noticed in the press that our project has gained a lot of attention and stimulated some controversy.  Indeed, one could never expect any advances with the potential of personalized medicine and personal genetic information to not be surrounded by controversy.  The year-long events associated with the On the Same Page program are designed to explore these controversies.

Among the controversial issues is the very important issue of genetic privacy.  To give you a very concrete example, I am looking forward to having my own genome sequenced, and there is much information there that I look forward to sharing with my doctor, a former Berkeley undergraduate.  However, I am not interested in learning whether I have a particular gene variant that would predispose me to Alzheimer’s disease.  And, at this point in life, I am very interested in having no one else know that about me either.  Why?  Well,………it is personal, and that’s the point.

Another aspect of the controversy is the extent to which genetic information can be used as a basis for discrimination.  Humans have long discriminated among each other for a variety of reasons, and genetic information is just one more way to discriminate.  The legacy of discrimination has left terrible scars on our national psyche that will take generations to heal.  The entire eugenics movement, which was quite strong in the US in the early 20th century, was based upon scientifically corrupt notions held both by some politicians as well as by some scientists that had a terrible national and international legacy. But for some aspects of genetic variation, the case is not so straightforward.  Here’s one example.  There are certain gene variants having to do with lung function that can make you highly predisposed to emphysema if you work in a very dusty industry like mining or certain kinds of milling.  Knowing this information about yourself can keep you healthy.  But imagine that you live in a part of the world where mining provides the best paying jobs.  If your employer demands a genetic test for this variant, and refuses to hire those with the variant to prevent losing employees and the coincident medical liabilities, you could find yourself at a severe economic disadvantage and nearly unemployable.

As you will see, there are many more controversial aspects of personalized medicine that will be covered during the year.  None of us know the full range of issues that will arise.  The only thing that we can be certain of is that any important technology has unintended consequences.  The value of any new type of information comes from how we use it.  We all have a stake in figuring out how personalized medicine and personal genetic information gets used for the benefit of humanity.  For that reason, we are thrilled to be able to engage you, with the full measure of your energy and intellect, in helping shape this important science and its impact on our lives.

I look forward to seeing you all at our kickoff event on September 13th, and at many of the following events in the program.