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

Jasper Rine, professor of genetics, genomics and development | July 13, 2010

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.

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

  1. We had a discussion on our psoriasis info resource whether individual genome has ability to pass psoriasis on descendants. In your opinion, diseases like that – could they be cured on genome level?

  2. Hey professor, I appreciate your efforts to spread insight about the future of health and medicine to the general population of non-biology geeks.

    My confusion as an amateur/up&comming neurobiologist is, in what sense does the DNA molecule endow us a “destiny”?

    For example, a UCSF study tied a 1-gene SNP to a 4-hours-of-sleep phenotype. This is destiny–the DNA’s interactions with cells/environments are literally altering the way one lives, daily. There’s also a hippocampus gene (the Homer Simpson gene) whose knockout endows mice with better spatial memory.

    But perhaps these phenotypes, like many other spiritual or personality-related phenotypes, can arise independently from DNA. For example, pain-causing traditions in yoga or the addictive use of opiates rewire some neurophysiology. So not only can DNA wire us up–but experience.

    THe reason I think this is a relevant point is because of placebo effects. If we do not properly educate people in how to interpret personalized medicine, I think disease rates will go up due to placebos, since everyone will have different succeptibilities to MANY diseases.

    In K-12, we teach 13 years of English, Math, and History. Genetics, however, could be taught just as easily in elementary school. Do you think an expansion of America’s biology curriculum is necessary before we can give people this “dangerous” genomic information?

    On a less-mentioned and unrelated note, the era of designer mescaline-ergic drugs like 2c-i could be replaced by much more powerful drugs encoded by plasmids, placed into whatever brain region one desires. Many receptors in the brain (like serotonin or opioid receptors) actually do not have simple neurotransmitters, but long amino acid oligomers, encoded by DNA, as natural ligands. The insights of LSD, amphetamines, and antipsychotics to brain physiology were tremendous, and personalized medicine will allow researchers to also look at brain oligopeptide function in a medical context.

  3. Dear Prof. Rine,
    I hope you are doing well. This is really interesting. How I wish I was a freshman right now so that I could participate in this experiment! Its really nice to read such educated comments too!
    Looking forward to reading/ hearing more about this in the coming months
    Take Care,

  4. Professor Rine,

    Although I am an advocate for personalized medicine (and have also submitted my DNA sample!), I have a few questions that I would like to ask/share.

    Primarily, you mentioned “the exploding cost of health care” as a threatening concern and that personalized medicine could help lower costs and of course improve the quality and length of our lives. I am a little puzzled as to how health care costs would decrease due to personalized medicine. I believe individual consulting with doctors and sequencing genomes would be much more costly than a doctor prescribing a common drug to patients with similar symptoms. How would it decrease costs of health care?

    Another concern I noticed that may be an issue: withholding genetic information from your doctor that could potentially reveal future diseases. Using your case for example, withholding the gene variant revealing whether or not someone will be predisposed to Alzheimer’s disease. Knowing that this information is readily available will pose psychological problems for people who are requesting their genome to be sequenced for other reasons, such as whether or not they can digest milk products properly. If a person in fear of knowing the truth asked his/her doctor to withhold the genetic information concerning Alzheimer’s, then he/she could potentially be psychologically unstable since information regarding his/her predisposition to disease is readily accessible and the thought of knowing that the truth is available seems haunting.

    Just another thought: In the near future, everyone should get their children’s genome sequenced during infancy and a database should store an individual’s genetic code gene-by-gene so that doctors can help a patient for a lifetime.

    This project is incredible, and I am honored to be a part of it. I know my questions probably do not have a clear-cut answer to them, but I thought I’d share regardless. There are so many ideas and questions swarming in my head, but I am sure that we will be able to go over many of them during lectures! I look forward to meeting you on the thirteenth of September!

    Thank you,


  5. I’m very interested in the social and economic aspects of personalized medicine … so the idea of genetic discrimination is one that piques my curiosity. Of course it would be business savvy for an employer to pay attention to the probability of his employees incurring diseases on the job. An employer does what is best for the company – and this means, for the most part, business decisions are made with profits in mind. The most profitable employee is one who can do the best quality of work for the longest time for the company. Looking at genetic information and hiring the “healthiest” person is similar to looking at a job applicant’s resume and hiring him because of his experience – for instance, choosing a person with a bachelor’s degree in art history for a museum curator position instead of a person without a degree who nonetheless professes knowledge of art history. Chances are that the person with the college degree will be better for the position and ultimately good for the museum business.

    However, academic and other experience is something a human being has more control over than their DNA. Furthermore, just as a person without the degree may have actually been more knowledgeable, a person with a genetic code that shows a high chance of heart disease could actually give more to a business than one with a low chance. The most passionate, intelligent, hardworking individuals could be looked over due to their genetic information. Hiring based on genetics, just like hiring based on race, gender, and the like, could prove detrimental to both the work force and businesses.

    P.S. Watch the movie Gattaca!

    • Dear Henna,

      Thanks very much for your clearly and cogently framed comments. There is some good news here. On May 28th 2008, President Bush signed into law the Genetic Information Nondiscrimination Act, known by the acronym GINA. GINA makes it illegal to discriminate against someone based upon their individual genetic make up in either health insurance or employment. This follows an earlier law signed by President Clinton guaranteeing the portability of health care insurance when one changes jobs, assuming of course that one’s job provides access to health insurance. These two laws are an important step in protecting us against that which, as you say, we have no control over.

      However, they are imperfect. We are still not protected against genetic discrimination in two important sectors of our lives: life insurance, and long term medical care insurance. So we still have important challenges ahead of us. If we work together and have a little luck, maybe our collective voices will eliminate the last opportunities of legal genetic discrimination.


      PS. I did watch GATTACA but, to be honest, I didn’t enjoy it that much. The production qualities and the acting were fine to my unsophisticated eye, but I have grown weary of movies in which science is cast as a mechanism for subjugating the human spirit. In reality, science has been a force for liberating the human spirit from the bonds of superstition and false authority since the Renaissance. Even before that Aristotle, Archimedes and friends had a couple of fine scientific ideas of their own.

  6. Dr. Rine, as an entering freshman, this is a cool way to start class. I just mailed in my first homework assignment; I look forward to learning more about how I handle homcysteine, lactose, and alcohol. As I learn about personalized medicine, I find that the focus is primarily on our genetic makeup. I find this perplexing since there appears to be little attention on the downstream events, ie, the actual expression and use of these proteins, endproducts, and/or metabolites and whether they even hit their targets. Is it fair to say that I may have a specific variant of a gene, but that specific variant does not necessarily translate into a wellness or disease outcome? Should we not also look at endmarkers or the products that conduct the business per se? In other words, a gene is present and the protein is expressed, but the body doesn’t take it up or use it, because there is an issue downstream dealing with a use of that product. Hence, the presence of the gene is only half of the story. So, would it not be more meaningful, in context, of the definition of personalized medicine, to know both the variant and whether the protein and/or metabolite is present… and whether it reaches its target. Therefore, in some instances, it may be more meaningful if we look at both the variant and a relevant downsteam marker(s) in my saliva? I am not sure whether downstream markers or targets are meaningful to these 3 genes, but in other instances, the downstream players might be more significant than the variant itself. With that said, can personalize medicine reach beyond genes to include non-genetic markers, such as metabolites? Anyway, I hope all my classes include discussion like this. Thank you.

    • Dear Jules,

      Boy, I can’t wait to have you in one of my classes. You obviously have a keen mind and sophisticated understanding already of how genetics is just a piece of the many things that contribute to our health and well being. You are absolutely right. We are looking at a rather narrow slice of biology. It is rather rare that one experiment or one test tells the whole story. In this project we are only, to coin a phrase, taking a peek inside your genes. The other three million variants that we are not testing could well include other relevant influences, as does the environment. We are at an interesting point in the history of human biology. Our capacity to sequence our genomes is advancing much faster than our ability to interpret the full significance, or in many cases, even the partial significance of the variants in our genomes. The goal of our program is to stimulate interest in this challenge, and in the multiple ancillary issues surrounding genetic privacy. I am really pleased that the project has grabbed your interest.


  7. Dear Mae,

    Thanks for you excellent questions. DNA is really much more like a blueprint than just a parts list as the instructions for how many of each part is to be made is encoded in DNA sequence as is the timing and place of delivery of all the parts, to use your metaphor.

    I don’t see this project as one intended to give anyone therapeutically useful information in the usual sense of the word therapy. Indeed, many students will already know whether or not they experience discomfort when they consume a certain amount of dairy products. All one of the gene variant tests we will perform will do is explain just what change in the blueprint allows certain people not to experience that discomfort.

    Of the three million genetic differences that distinguish any two people, we are testing only three common differences to give people a sense of what kind of information they might learn from their genome sequence. The potential of personalized medicine will depend upon people having some level of understanding of genetic variation. Our goal is to help Berkeley students develop the skills and understanding to be thought leaders on this topic as our society comes to grips with the many fascinating dimensions to our genome sequence.

  8. You seem to be suggesting that participating in this program will have therapeutic value. Is it your hope that, armed with this information, students will modify their behavior? Or is this intended more as a trial run for the kind of medicine they’ll experience in the future?

    As an undergrad at Cal in the 80’s, I routinely heard genetic material referred to as a ‘blueprint.’ After completion of the Human Genome Project however, DNA seems more like a materials list, and those materials are common to almost all life forms. As I see it, our DNA simply specifies the biological equivalent of a 2×4 or a nail, and does not include instructions for how to build (or maintain) the structure.

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