Individualizing medicine: what I learned from CIMCON17

As part of my MD/PhD, I get to attend a few scientific and medical conferences every year. I’m incredibly grateful for the chance to network with other students, meet people from around the country, and hear experts in the field share their research and knowledge.

Last week, I traveled to Mayo Clinic in Rochester, Minnesota for the Center for Individualizing Medicine Conference 2017. This was my second year attending this conference, and it certainly did not disappoint. Over the two days, I took dozens of note pages from the speakers and discussions. I left thoroughly inspired and thought it was worth condensing the most important insights I gained into a single blog post to share.

So here they are: my top 11 highlights from CIMCON17!

1) Clinical whole genome sequencing is already here

Dr. Keith Stewart, director of the Center for Individualizing Medicine, kicked off the conference by talking about integrating genomics into clinical practice. Many people have debated whether it’s really time to start using whole genome sequencing in the clinic. At Mayo Clinic, it’s already a part of patient care, and the stats are quite remarkable:

  • 5% of individuals who have their genome sequenced have a new medically significant finding
  • 99% of individuals who have their genome sequenced have actionable pharmacogenomic information, meaning that certain drugs are indicated or contraindicated by their genes
  • (I’d add to this that a significant amount of people would have actionable dietary and lifestyle information, though Dr. Stewart did not present this data.)

Dr. David Ledbetter, leader of Geisinger’s MyCode Community Health Initiative, believes that universal genome sequencing will become a routine part of medicine in the next 10 years, beginning at birth or even while babies are still in the womb. This will improve individual health and well-being while maintaining or reducing the total cost of healthcare over the lifespan.

2) The cost of whole genome sequencing is dropping more than exponentially

Whole genome sequencing (WGS) technology has seen huge advances in the last few decades, and the cost is dropping faster than exponentially. From 2008 to 2015, the cost of a WGS fell from $10 million to just $1,000. Innovative technologies are continuing to be developed that will allow for large-throughput, massively parallel sequencing. According to Dr. Radoje Drmanac, co-founder of Genome Inc., we can easily reach $100 WGS in the near future.

3) The microbiome is an ecosystem and is subject to disturbances

I usually don’t expect to learn much from microbiome talks at medical conferences like this, as they are often geared towards the average doctor, who (unfortunately) knows little about the microbiome. This year, though, I felt that the microbiome talks were the hit of the conference.

Dr. David Relman, Professor of Microbiology and Immunology at Stanford, gave a fascinating talk on an ecological approach to the microbiome. He suggests that if we can “think like park rangers” and understand the microbiome as an ecosystem, we can predict how it will respond to perturbations. It so dramatically changed by perspective on the microbiome that I will be devoting an entire future blog post to this topic.

4) Smart toilets and breath testing mirrors may not be too far off

Dr. Rob Knight, Director of the Center for Microbiome Innovation at the University of California, San Diego and legend in the field of microbiome research, gave an incredibly thought-provoking and forward-looking talk, that clearly portrayed his optimism about the future of microbiome testing in clinical practice. Dr. Knight stressed that a person’s body is made up of 22,000 human genes, but 2 to 20 million microbial genes. With genomic testing, we’re trying to apply systems biology to humans but ignoring 99% of the system!

Dr. Knight has several revolutionary ideas for direct-to-consumer products, including “smart toilets”, which promptly analyze your microbiome and send dietary advice to your smartphone, and “breath testing mirrors”, which can analyze gases in the breath and warn you when you might be about to develop irritable bowel syndrome (IBS). This “microbiome GPS”, as he calls it, combines genetic sequencing technologies with artificial intelligence to provide real-time feedback to prevent disease and promote health.

5) The next generation of doctors will need to understand genomic medicine

Frankly, I was a bit disappointed with the lack of discussion about medical education and how it will need to change to support individualized medicine. There was some mention, albeit brief, that the next generation of doctors will need to understand genomic medicine and be able to explain genomic results to patients. This would likely require (1) primary care doctors trained in genetic counseling and (2) time for doctor-patient interaction. The problem? We’re lacking in both. Primary care is declining, and most doctors only get 8-12 minutes with patients.

6) Biobanks and big data are becoming the norm

Several speakers discussed ongoing large-scale programs, including Geisinger’s Precision Health Initiative, the All of Us Research Program, MedSeq and BabySeq, and the NIH Undiagnosed Diseases Program. By forming a huge “biobank” of biological samples from a diverse population, these programs will form an extensive database for genomic medicine that can be mined for new disease associations and, hopefully, applied lifestyle interventions as well.

7) The microbiome is more than just bacteria

On Monday, I attended a fascinating breakout session called “Beyond Bacteria: What Constitutes the Microbiome and How to Manipulate It.”  In this captivating session, several speakers presented their research on the role of archaea, fungi, and viruses in health and disease. While these microorganisms are less well characterized than bacteria, they are an integral part of human health. Keep an eye out for future blog posts where I will discuss the non-bacterial members of the microbiome

8) Cell-free DNA is an incredibly useful, up-and-coming tool

Cell-free DNA is a non-invasive method that can track cancer, detect organ transplant rejection, identify tissue damage, and more. It will be incredibly exciting to see how this tool progresses and continues to be integrated into clinical practice.

9) Individualized medicine is increasingly pharma-focused

At CIMCON 2016, several speakers talked about individualized wellness, and the use of apps that would help patients tailor their diet and exercise patterns to their genes. This year, the plenary speakers were largely focused on utilizing genomic testing to shape targeted drug therapies. This is called pharmacogenomics. For example, if you have a gene variant X, you might be more responsive to drug Y and more likely to have side effects from drug Z.

While precision drug therapy is important and certainly useful, I couldn’t help but be slightly disappointed by the obvious shift in the theme of the speakers. The future of medicine is predictive, preventive, personalized, and participatory. As Thomas Edison once said: “The doctor of the future will give no medicine, but will instruct his patient in the care of the human frame, in diet, and in the cause and prevention of disease.” Pharmacogenomics should represent less than 5% of medical care in the future, and should only be utilized for those who cannot be restored to optimal health through root-cause medicine.

10) The future is multi-‘omic’

Imagine advanced healthcare tailored to individual genomes. You receive genomic sequencing once, preferably early in life, and receive computer-generated reports and personalized medical follow-up. You also have samples taken regularly for individual “omics”, including:

  • Epigenomics: to determine which of your genes are available for transcription
  • Transcriptomics: to determine which genes are being transcribed into RNA
  • Proteomics: to test which RNA is being translated into protein
  • Microbiomics: to determine which microbes are present in and on your body
  • Metabolomics: to elucidate how your microbiome is interacting with your diet and genes

This is the model presented by Dr. Madhuri Hedge, Professor of Genetics at Emory Unversity, and I think it’s a great start!

For me, individualized medicine is more than just omics though.  Omics tell about how the system should function: if we know the parts, we can predict how the whole will work. But we already have plenty of tests that can assess how whole body systems are functioning, yet fail to use them. This includes things like advanced hormone testing, food sensitivity testing, gut permeability assays, and urine organic acids tests. Until we utilize these and recognize integrative, root-cause medicine, omics will fail to be the preventive boon that many say it will be.

11) Finally, I remembered why I loved Rochester last year.

With tons of walking trails, a beautiful downtown, and one of the best gluten-free restaurants I’ve ever been to, I was sad to leave on Wednesday. Needless to say, I learned a ton, had a great time, and am definitely looking forward to CIMCON18!

Sad to be leaving Rochester. Looking forward to #CIMCON18!

A post shared by NextGen Medicine (@nextgenmedicine) on

Did you like this post? Leave a comment and subscribe below!

 

Sources:

Center for Individualizing Medicine Conference, 2017, Mayo Clinic, Rochester, MN

Individualizing medicine: what I learned from CIMCON17

As part of my MD/PhD, I get to attend a few scientific and medical conferences every year. I’m incredibly grateful for the chance to network with other students, meet people from around the country, and hear experts in the field share their research and knowledge.

Last week, I traveled to Mayo Clinic in Rochester, Minnesota for the Center for Individualizing Medicine Conference 2017. This was my second year attending this conference, and it certainly did not disappoint. Over the two days, I took dozens of note pages from the speakers and discussions. I left thoroughly inspired and thought it was worth condensing the most important insights I gained into a single blog post to share.

So here they are: my top 11 highlights from CIMCON17!

1) Clinical whole genome sequencing is already here

Dr. Keith Stewart, director of the Center for Individualizing Medicine, kicked off the conference by talking about integrating genomics into clinical practice. Many people have debated whether it’s really time to start using whole genome sequencing in the clinic. At Mayo Clinic, it’s already a part of patient care, and the stats are quite remarkable:

  • 5% of individuals who have their genome sequenced have a new medically significant finding
  • 99% of individuals who have their genome sequenced have actionable pharmacogenomic information, meaning that certain drugs are indicated or contraindicated by their genes
  • (I’d add to this that a significant amount of people would have actionable dietary and lifestyle information, though Dr. Stewart did not present this data.)

Dr. David Ledbetter, leader of Geisinger’s MyCode Community Health Initiative, believes that universal genome sequencing will become a routine part of medicine in the next 10 years, beginning at birth or even while babies are still in the womb. This will improve individual health and well-being while maintaining or reducing the total cost of healthcare over the lifespan.

2) The cost of whole genome sequencing is dropping more than exponentially

Whole genome sequencing (WGS) technology has seen huge advances in the last few decades, and the cost is dropping faster than exponentially. From 2008 to 2015, the cost of a WGS fell from $10 million to just $1,000. Innovative technologies are continuing to be developed that will allow for large-throughput, massively parallel sequencing. According to Dr. Radoje Drmanac, co-founder of Genome Inc., we can easily reach $100 WGS in the near future.

3) The microbiome is an ecosystem and is subject to disturbances

I usually don’t expect to learn much from microbiome talks at medical conferences like this, as they are often geared towards the average doctor, who (unfortunately) knows little about the microbiome. This year, though, I felt that the microbiome talks were the hit of the conference.

Dr. David Relman, Professor of Microbiology and Immunology at Stanford, gave a fascinating talk on an ecological approach to the microbiome. He suggests that if we can “think like park rangers” and understand the microbiome as an ecosystem, we can predict how it will respond to perturbations. It so dramatically changed by perspective on the microbiome that I will be devoting an entire future blog post to this topic.

4) Smart toilets and breath testing mirrors may not be too far off

Dr. Rob Knight, Director of the Center for Microbiome Innovation at the University of California, San Diego and legend in the field of microbiome research, gave an incredibly thought-provoking and forward-looking talk, that clearly portrayed his optimism about the future of microbiome testing in clinical practice. Dr. Knight stressed that a person’s body is made up of 22,000 human genes, but 2 to 20 million microbial genes. With genomic testing, we’re trying to apply systems biology to humans but ignoring 99% of the system!

Dr. Knight has several revolutionary ideas for direct-to-consumer products, including “smart toilets”, which promptly analyze your microbiome and send dietary advice to your smartphone, and “breath testing mirrors”, which can analyze gases in the breath and warn you when you might be about to develop irritable bowel syndrome (IBS). This “microbiome GPS”, as he calls it, combines genetic sequencing technologies with artificial intelligence to provide real-time feedback to prevent disease and promote health.

5) The next generation of doctors will need to understand genomic medicine

Frankly, I was a bit disappointed with the lack of discussion about medical education and how it will need to change to support individualized medicine. There was some mention, albeit brief, that the next generation of doctors will need to understand genomic medicine and be able to explain genomic results to patients. This would likely require (1) primary care doctors trained in genetic counseling and (2) time for doctor-patient interaction. The problem? We’re lacking in both. Primary care is declining, and most doctors only get 8-12 minutes with patients.

6) Biobanks and big data are becoming the norm

Several speakers discussed ongoing large-scale programs, including Geisinger’s Precision Health Initiative, the All of Us Research Program, MedSeq and BabySeq, and the NIH Undiagnosed Diseases Program. By forming a huge “biobank” of biological samples from a diverse population, these programs will form an extensive database for genomic medicine that can be mined for new disease associations and, hopefully, applied lifestyle interventions as well.

7) The microbiome is more than just bacteria

On Monday, I attended a fascinating breakout session called “Beyond Bacteria: What Constitutes the Microbiome and How to Manipulate It.”  In this captivating session, several speakers presented their research on the role of archaea, fungi, and viruses in health and disease. While these microorganisms are less well characterized than bacteria, they are an integral part of human health. Keep an eye out for future blog posts where I will discuss the non-bacterial members of the microbiome

8) Cell-free DNA is an incredibly useful, up-and-coming tool

Cell-free DNA is a non-invasive method that can track cancer, detect organ transplant rejection, identify tissue damage, and more. It will be incredibly exciting to see how this tool progresses and continues to be integrated into clinical practice.

9) Individualized medicine is increasingly pharma-focused

At CIMCON 2016, several speakers talked about individualized wellness, and the use of apps that would help patients tailor their diet and exercise patterns to their genes. This year, the plenary speakers were largely focused on utilizing genomic testing to shape targeted drug therapies. This is called pharmacogenomics. For example, if you have a gene variant X, you might be more responsive to drug Y and more likely to have side effects from drug Z.

While precision drug therapy is important and certainly useful, I couldn’t help but be slightly disappointed by the obvious shift in the theme of the speakers. The future of medicine is predictive, preventive, personalized, and participatory. As Thomas Edison once said: “The doctor of the future will give no medicine, but will instruct his patient in the care of the human frame, in diet, and in the cause and prevention of disease.” Pharmacogenomics should represent less than 5% of medical care in the future, and should only be utilized for those who cannot be restored to optimal health through root-cause medicine.

10) The future is multi-‘omic’

Imagine advanced healthcare tailored to individual genomes. You receive genomic sequencing once, preferably early in life, and receive computer-generated reports and personalized medical follow-up. You also have samples taken regularly for individual “omics”, including:

  • Epigenomics: to determine which of your genes are available for transcription
  • Transcriptomics: to determine which genes are being transcribed into RNA
  • Proteomics: to test which RNA is being translated into protein
  • Microbiomics: to determine which microbes are present in and on your body
  • Metabolomics: to elucidate how your microbiome is interacting with your diet and genes

This is the model presented by Dr. Madhuri Hedge, Professor of Genetics at Emory Unversity, and I think it’s a great start!

For me, individualized medicine is more than just omics though.  Omics tell about how the system should function: if we know the parts, we can predict how the whole will work. But we already have plenty of tests that can assess how whole body systems are functioning, yet fail to use them. This includes things like advanced hormone testing, food sensitivity testing, gut permeability assays, and urine organic acids tests. Until we utilize these and recognize integrative, root-cause medicine, omics will fail to be the preventive boon that many say it will be.

11) Finally, I remembered why I loved Rochester last year.

With tons of walking trails, a beautiful downtown, and one of the best gluten-free restaurants I’ve ever been to, I was sad to leave on Wednesday. Needless to say, I learned a ton, had a great time, and am definitely looking forward to CIMCON18!

Sad to be leaving Rochester. Looking forward to #CIMCON18!

A post shared by NextGen Medicine (@nextgenmedicine) on

Did you like this post? Leave a comment and subscribe below!

 

Sources:

Center for Individualizing Medicine Conference, 2017, Mayo Clinic, Rochester, MN