Center for Personalized Healthcare Summer 2012
Second Annual Personalized Healthcare Summit Draws Practicing Clinicians
Cleveland Clinic’s Center for Personalized Healthcare hosted the 2nd Annual Personalized Healthcare Summit on Thursday, May 31, 2012, at the InterContinental Hotel in Cleveland, Oh. The theme of this year’s event was Personalized Healthcare for the Practicing Clinician, with presentations and panels focusing on clinically-relevant applications of personalized healthcare, the research behind these discoveries, and solutions to incorporate personalized healthcare into clinical practice. Almost 100 people attended this year’s event from all over the United States and the world, including from as far away as Washington State, California and New Zealand.
Several themes emerged during the 2nd Annual Cleveland Clinic Personalized Healthcare Summit, including the following:
- Necessity to develop evidence based clinical decision support tools to integrate personalized healthcare into the practice of medicine at the point of care
- Intersection of value based healthcare and personalized healthcare, using evidence based medicine
- Ethical implications of the use of genetic data and the delivery of care based on genetic information
- Challenges relating to genetic and genomic data, including the manipulation and use of the data in ways that are clinically applicable and appropriate and educating both the clinician and the patient about the use of this information
- Pharmacogenetic approaches need to address not just which medication to prescribe and how much, but adherence by the patient to what is prescribed
- Use of team based care, and consistency of the team to allow the patient to become more comfortable with their care plans
- Development of innovative business models will be needed to allow/encourage adoption of personalized healthcare, including the development and use of risk calculators, information technology systems and novel systems for care
- Systems built to support personalized healthcare must be learning systems, including both information technology and healthcare systems as a whole
- Clinical research in support of the application of personalized healthcare is important, and growing in importance
- Personalized healthcare application is to be approached with cautionary optimism, but there has to be a balance between going too fast and derailing the activities. The field should make progress with care, but take action when possible.
The Center for Personalized Healthcare Team is already planning the 3rd Annual Cleveland Clinic Personalized Healthcare Summit, scheduled for June 4-5, 2013. Information relating to the 2013 event will be posted to the following site as soon as it is available: www.clevelandclinic.org/phcsummit.
Food (and Genes) for Thought
Have you ever wondered how the foods you and your family eat actually work to impact your health? Or why some people seem to naturally prefer one food over another? These are some important questions in nutrigenomics, the science studying nutrition (how our diet affects our health) and genetics (our inherited information that we share with family members).
Here are two terms used to describe this new field of research:
- Nutrigenomics: How our diets affect which genes are read, or expressed, and when. Our genetic information is the same in every cell of our body, but different genes are needed for certain functions.
- Nutrigenetics: How genetic differences (variation) between people affect our response to diet. Although genetic information between two people is only different by a small amount, that difference explains a lot about our health, which may include our response to foods.
Q: What are some examples of how our genes affect how foods are used in our body?
A: The rare genetic condition phenylketonuria, or PKU, is caused by a change, or mutation, in the group of genes that helps our body process protein. When there is a mutation, the body cannot break down one of the building blocks of protein, an amino acid called phenylalanine. Build-up of phenylalanine is toxic to the body, affecting the development of the brain, pigmentation of the skin, and causing additional problems in other parts of the body. Individuals that have this condition need special foods and supplemental formulas that ensure their body doesn’t receive too much phenylalanine.
Another example of how genes affect how foods are used by our bodies is celiac disease. Celiac disease is a condition where the body has difficulty tolerating gluten, a protein found in most bread and wheat products. Individuals with Celiac must avoid gluten in their daily diet to avoid uncomfortable side effects from inflammation in the small intestine (1). Unlike PKU, the genetics of Celiac disease are not as well understood at this time; it appears that instead of specific mutations, variations in genes, called polymorphisms, may predispose certain people to Celiac. It is important to note that not everyone with the same polymorphism will develop Celiac. Also, these polymorphisms only explain a part of the risk to develop Celiac, suggesting that environment and other exposures may also be risk factors.
In summary, there are genetic conditions caused by specific changes in genes that affect health and require dietary changes, like PKU, as well as conditions that may have some genetic components and some lifestyle (including dietary) components, like Celiac.
Q: Is there such a thing as a “skinny” or “fat” gene?
A: You might read in the news about newly discovered genes that have a very specific role in the body, but in reality, numerous genes interact with dietary substances to affect our health (2). In fact, scientists have identified over 100 genes thought to play a role in the development of obesity. For example, researchers who study the FTO gene demonstrated that individuals with a particular “spelling” of the gene had an increased abdominal circumference and higher BMI when eating a diet higher in saturated fat. In contrast other individuals, with a different “spelling” of the gene than the first group, did not have a change in their measurements when eating a higher saturated fat diet (3). This study suggests that some people may benefit from slight modifications to their dietary choices depending on their genetic make-up. However, it’s important to remember that genetics isn’t everything – our lifestyle and environment play a big role in our health, and include things we can control and changes ourselves.
Q: Should I get a genetic test to help me decide what to eat?
A: Your food preferences and choices probably have a lot more to do with your ethnic or cultural background and your experiences growing up than what current science could recommend based on your genetic information. Even though there is a lot of interest in the ability of genetic testing to provide a personalized diet, most scientists agree more work needs to be completed before this goal is met. Most of the genes that have been studied have only a very small effect on disease risk. Be very cautious of companies that offer “SNP” or genetic testing and provide dietary recommendations. Often the tailored report uses information from your demographics, lifestyle behaviors, and present health conditions, not information directly from your genes (4)! Also, these companies typically offer expensive nutritional supplements which have not been consistently shown to have benefits. What’s more useful for personalizing a risk of common, chronic disease is being aware of your family history, and modifying lifestyle behaviors such as exercise, smoking, and alcohol intake.
A lot of great work is being done to understand how our genetic differences affect the way nutrition improves our health. By measuring the level of gene expression, scientists hope to discover targeted ways to reduce the risk of chronic disease through certain dietary interventions. Keep on the lookout for more advances in this field, and be aware of the positive health choices you can already make.
- Sollid LM, McAdam SN, Molberg O, Quarsten H, Arentz-Hansen H, Louka AS, et al. Genes and environment in celiac disease. Acta odontologica Scandinavica. 2001;59(3):183-6. Epub 2001/08/15. PubMed PMID: 11501889.
- deLange C. Underweight? You may have skinny genes New Scientist2011 [cited 2012 Apr 30]. Available from: www.newscientist.com/article/dn20852-underweight-you-may-have-skinny-genes.html.
- Phillips CM, Kesse-Guyot E, McManus R, Hercberg S, Lairon D, Planells R, et al. High dietary saturated fat intake accentuates obesity risk associated with the fat mass and obesity-associated gene in adults. The Journal of nutrition. 2012;142(5):824-31. Epub 2012/03/30. doi: 10.3945/jn.111.153460. PubMed PMID: 22457394.
- Office GA. Nutrigenetic Testing: Test Purchased from Four Web Sites Mislead Consumers In: Investigations FAaS, editor. 2006.
CPH Team Members Earn Top Awards
Earlier this spring, several members of the Center for Personalized Healthcare team received the Caregiver Award, the highest possible honor in the Caregiver Celebrations program. Dr. Cosgrove and other members of executive leadership recognized individuals as well as teams across the enterprise who received the award during a special ceremony.
The Caregiver Award is the top honor (Tier 4) in the Caregiver Celebrations program, awarded once a year to acknowledge those who show the most initiative or demonstrate the highest outstanding achievement, or behaviors resulting in the greatest positive impact on the Cleveland Clinic Experience through patient care, business operations, leadership, financial performance, or other areas important to the success of the Cleveland Clinic.
The e-Genetics Team, comprised of Thad Meese and Megan Doer from CPH, along with Rebecca Cook, Brandie Leach, Jill Polk, Marissa Smith, and Maureen May (all from the Genomic Medicine Institute) was recognized for their innovative approach to algorithm development as part of the Clinical Decision Support Tool (CDST). The CDST, due out in pilot form by the end of the summer, is a web-based tool that will enable patients to enter their family health history prior to the clinical visit. Once this data has been entered, the CDST will generate a report which becomes part of the patient’s EMR and contains decision support information for their clinician.
In addition, Peter Balint, Project Manager for the Center for Personalized Healthcare, received a Caregiver Award for participating in the Conversational English Program at Lerner Research Institute. Peter and fellow coaches were recognized for their fulfillment of the Cleveland Clinic’s mission on diversity within the enterprise.
Congratulations to all these employees for their hard work and achievements in earning these prestigious awards!
Personal Genomic Testing
What exactly is personal genomic testing? It is genomic testing marketed to individual consumers. Two recognizable companies in this field are 23andMe and Navigenics. 23andMe allows and encourages individuals to order kits and obtain results themselves, aligning with their primary goal of engaging and empowering consumers in their health. Navigenics offers genomic testing profiles through physician offices, requiring that physicians and patients obtain some degree of formal education through the process. Navigenics claims to include only tests which are clinically actionable. 23andMe, in contrast, includes tests for traits or conditions which may be more recreational (such as ability to smell asparagus and straight vs. curly hair). 23andMe also includes genealogy and encourages participation in social networking groups. Both include single gene conditions, multi-factorial conditions and pharmacogenetic testing.
Interpretation of personal genomic testing requires a fundamental understanding of genetic principles – patterns of inheritance, single gene disorders, and genome-wide-association studies. Once a sample is received in the lab, the sample is tested for an array of SNPs (single nucleotide polymorphisms) which have been associated with disease. Some SNPs track closely with disease risk and others not as closely. Some associations are stronger depending on ethnicity and the array of SNPs can vary from company to company. Due to all of these variables, interpretation should be undertaken with caution. The general principle is that any positive risk or association should be confirmed with the assistance of additional tests or referral to medical genetics. Negative risk or association may provide false reassurance and should not be interpreted as lack of risk. When evaluating risk for disease, it is important to remember that most conditions are multi-factorial in etiology and genetics is only one factor to consider in the overall risk for disease. In contrast, pharmacogenetic SNP analysis to evaluate risk for adverse drug events is often quite accurate, although again, factors other than genetics may influence drug metabolism.
Due to the complexities in interpretation of personal genomic testing, most personal genomic testing companies now offer genetic counseling services. Navigenics requires interaction with their genetic counselors as part of the testing process. Another off-shoot of personal genomic testing has been the concept of medical philanthropy – the donation of DNA towards large-scale research studies. One such study is being done by 23andMe in collaboration with Cleveland Clinic. This study is currently recruiting patients with Parkinson’s disease with the hope of finding novel genetic variants associated with this disease.
In summary, despite the caveats listed above, personal genomic testing provides an opportunity for us (providers and patients) to learn about genomics and its role in prediction of disease risk and adverse drug events. It can also provide an opportunity to investigate one’s heritage and network with others who share similar genealogy and/or disease risk. Lastly, personal genomic testing can offer a way for patients to engage in medical philanthropy, using their DNA to contribute to research discoveries.
Celebrating our Heroes
Please help us Congratulate Dr. Tom Daly, MD, the recipient of the 1st Personalized Healthcare Hero award.
The Personalized Healthcare Hero award is given quarterly to a Cleveland Clinic employee who demonstrates commitment to the personalized healthcare initiative, embraces personalized healthcare approaches in their daily activities, and advocates for integration of personalized healthcare into the standard practice of medicine. In addition, this individual has contributed to advances in personalized healthcare and supported the specific initiatives and projects sponsored by the Center for Personalized Healthcare. Recipients of this award will be announced quarterly in our E-newsletter and recognized formally once yearly.
This quarter’s recipient, Dr. Tom Daly is currently the Section head of Immunopathology at Cleveland Clinic and the Director for the Center for Test Development at Cleveland Clinic. From the inception of the Center for Personalized Healthcare, Dr. Daly has been a staunch supporter of personalized healthcare and the potential it holds to improve the quality of care we may provide to our patients. With his background in the pharmaceutical industry and test development, he has been a wealth of knowledge related to pharmacogenetics and assay development. He has committed countless hours to Center for Personalized Healthcare - brainstorming ideas, offering advice, and actually helping to investigate and generate important analyses needed to move our projects forward. On a personal level, Tom has been a joy to work with – he is highly collaborative, invested, patient, and we have come to consider him as an integral member of our team.
We thank Dr. Daly for his commitment to our initiative and his un-tiring dedication to bring new and exciting personalized healthcare approaches into the standard practice of medicine.
Personal Experience with Personalized Healthcare
One of the more common questions we hear at the Center for Personalized Healthcare is, “How does this translate to the patient?” We decided we’d hit it square on at our Personalized Healthcare Summit in May. We invited Dana Kachurchak, a Cleveland Clinic patient who took the opportunity to speak firsthand about navigating her way through a maze of options while discovering the foundations of personalized healthcare. She took the stage alongside her doctor, Holly Pederson. Together they recounted Dana’s courageous journey.
Dana explained that after her mother’s death from ovarian cancer three years ago, her doctor recommended specific test to help determine her predisposition for developing the same or similar cancers as her mother. A questionable ultrasound revealed an ovarian shadow; prophylactic oophorectomy(surgical removal of the ovaries) was recommended. A day before the surgery, Dana also learned that other genetic testing showed she was BRCA positive. Admittedly, she did not know what that meant, but she did know that she’d have big decisions after the surgery.
Her doctor explained how the BRCA test works and that results are directly related to her genetic makeup (specifically, mutations in the BRCA gene which predict hereditary breast and ovarian cancer.) If she did nothing, she had an 87% chance of developing breast cancer by age 70. Dana, having thought she had mitigated the biggest risk by proceeding with the oophorectomy was now faced with another huge life decision.
Knowing that she had to make a decision, but refusing to do so in a vacuum, reached out to Dr. Holly Pederson at Cleveland Clinic. Dr. Pederson is well equipped to help individuals with inherited cancer risks. She worked with Dana to create a family history. They used this as guide and with the results of the BRCA test Dr. Pederson explained that Dana could do nothing and practice regular and rigorous surveillance or opt for a prophylactic double mastectomy (surgical removal of both breasts). Now armed with very specific information about her genetic make-up and very clear advice on her options, Dana took a year to decide that surgery was the option for her.
Dana sees herself as a “previvor,” a survivor of a predisposition to cancer but who hasn’t had the disease because of proactive measures. She points out that by using her family history along with the proper genetic testing she had alleviated a potentially fatal scenario.
The promise of personalized healthcare leverages the same methods Dr. Pederson used with Dana, but introduces them earlier on; perhaps in the first visit. When embedded risk assessment tools become electronically available to every doctor in their standard practice of care, we can say we’ve made a stride in moving toward true personalized care. Our job at the Center for Personalized Healthcare is to ensure the rapid roll-out of new technologies, practices and understanding of what personalized healthcare really is. And this, of course, leads to better care for our patients.