Posts (15)

Wed, May 15 8:00am · One year in, All of Us Research Program makes strides in diverse health research

All of Us Research Program Group

For far too long, biomedical research has been based on a small subset of the United States population, leading to prevention and treatment methods that are often one-size-fits-all. To address this issue, the National Institutes of Health All of Us Research Program is working to build a cohort of one million or more participant partners that reflects the diversity of the United States.

Program participants provide data and samples that will be broadly accessible to researchers for a wide range of studies. By taking into account individual differences, researchers will uncover paths toward delivering precision medicine — or individualized prevention, treatment, and care — for all of us.

May 6 marked one year from the program’s national launch. A Facebook live session,  “From Data to Discoveries: Creating a Research Program for All of Us,” was hosted by Francis Collins, M.D., Ph.D., director, National Institutes of Health. Dr. Collins identified the building blocks of a meaningful research program, including an engaged and diverse participant community, and forecasted the program’s scientific possibilities.

1st Year Milestones – All of Us Research Program Biobank at Mayo Clinic

Mayo Clinic is one of more than 100 organizations across the United States that is funded by the National Institutes of Health All of Us Research Program. In 2016, Mayo Clinic was awarded $142 million in funding over five years by the National Institutes of Health to serve as the program’s biobank.

“The All of Us Research Program biobank at Mayo Clinic has the capacity to store more than 35 million biospecimens.”

Since the launch of the program on May 6, 2018 several milestones have been reached.

“The All of Us Research Program biobank at Mayo Clinic has the capacity to store more than 35 million biospecimens,” says Stephen Thibodeau, Ph.D., co-principal investigator of the All of Us Research Program biobank funding award. “It is currently storing more than 3 million frozen vials from consented participants and has capacity to process samples from up to 1,500 participants per day.”

In addition to increasing lab space in Rochester and on the Mayo Clinic campus in Florida, the team ramped up equipment, built up its technical infrastructure, and has established a business continuity plan in the case of a catastrophic event.

“We expanded our laboratory operation to fully automate sample processing and sample storage,” says Mine Cicek, Ph.D., co-principal investigator and laboratory director, Mayo Clinic Biorepositories Program, Center for Individualized Medicine. “Our team continually monitors multiple indicators related to incoming specimen quality control events and provides feedback to enrollment sites.”

From hiring support staff to maintaining an education plan for program partners to providing 24/7 customer support the All of Us Research Program Biobank at Mayo Clinic works to enable precision medicine research to improve the health of the nation.

More information

For more information, visit the All of Us Research Program website.

Watch the Facebook Live session celebrating the program’s one-year mark and hear from National Institutes of Health Director Francis Collins, M.D.:

Dr. Thibodeau is the David F. and Margaret T. Grohne Director, Mayo Clinic Biorepositories Program, Center for Individualized Medicine.
This work is supported under NIH funding award RFA-PM-16-004. 

“All of Us” is a registered service mark of the U.S. Department of Health and Human Services. For more information, visit http://www.JoinAllofUs.org and http://www.allofus.nih.gov.

Tue, Apr 23 10:07am · Editorial: Why DNA sequencing is an effective tool for patient care

By Keith Stewart, M.B., CH.B.

For the past 30 years, I’ve been fortunate enough to work with and help many patients. But over that time, I’ve also met people who did not respond to therapy or had significant side effects, while others had marvelous responses. Cases like these show a clear need for personalized medicine. Fortunately, I’ve also seen the adoption of a new technology that allows us to gain unprecedented insight into a patient’s specific needs: DNA sequencing.

Dr. Keith Stewart, Medical Director, Mayo Clinic Center for Individualized Medicine
Dr. Keith Stewart

Everyone has their own unique sequence of DNA — a molecular fingerprint — that determines personal characteristics like height, hair and eye color, and risk for disease. Research has shown us that insights into a person’s DNA sequence allows us to personalize their health care to their own genetic makeup to better meet their needs.*

In the past decade, we’ve seen exponential growth in DNA sequencing technology and an expansion of its use in medicine.* In 2012, Mayo Clinic adopted DNA sequencing as a major tool in individualized medicine by using targeted gene panels and whole exome sequencing. We started by looking for actionable targets in patients with advanced cancers (unique features of a tumor that can make one therapeutic drug particularly effective). We quickly expanded this approach beyond cancer by opening clinics that helped to diagnose rare and undiagnosed diseases.

Rare and undiagnosed diseases

Our patients come from around the world, often seeking a diagnosis for a rare disease that no other doctor or clinic has been able to provide. Whole exome testing sequences more than 20,000 genes. That represents about one percent of a patient’s DNA — the part that we today understand contains the majority of useful genetic information that can pinpoint an illness. Patients can get their DNA mapped and have results within a few weeks to apply to their treatment plans. Prenatal screening could be made less invasive and more comfortable for patients with DNA sequencing, so we did that too. What we found was that DNA sequencing greatly expanded our ability to help patients by providing them with more informed and often more effective health care.

Treatment of cancers

One area where we’ve found DNA sequencing to be particularly effective is in the treatment of cancers.* One example that comes to mind is that of a young girl who had acute lymphoblastic leukemia, an aggressive form of blood cancer. None of the mainline therapeutic strategies had worked for this patient. But thankfully, DNA sequencing identified mutations in the cancer that could be leveraged. It’s clear from this example — and from many more like it — that DNA sequencing is a valuable tool in designing personalized treatments for some cancer patients. But there’s also benefit in potentially preventing the development of cancer in the first place. It’s estimated that between 10-15% of cancers involve a heritable mutation.* Current screening methods used to identify people who are at risk of developing cancer may miss up to 50% of heritable cancers. That leaves a lot of room for improvement, and DNA sequencing is proving to be a valuable tool in this regard.

Prevention of adverse drug reactions

Another valuable application is in the prevention of adverse drug reactions. It’s probably no surprise to learn that some people respond to medicine differently compared to others. In some of these cases, people may even have an unwanted or dangerous response to the drug. These are known as adverse drug reactions, and it’s estimated that approximately 1.5 million of them happen each year in the U.S., resulting in a thousand deaths annually. Research has shown us that some people are genetically predisposed to experiencing an adverse drug reaction, which means there’s an opportunity for DNA sequencing to help identify those individuals and help guide their treatment away from unnecessary risks.

My personal experience

It so happens that I’m one of those individuals. Through DNA sequencing, I found that I should avoid a number of medicines. Most of them are drugs that I will probably never need, but some of them I might. Thanks to this testing, I know what those are and can act accordingly in the future. This brings me to a benefit of DNA sequencing that I think we often overlook. I had my DNA sequenced and got information about my carrier status, potential drug reactions, and a number of health conditions. This was important to me because I have family members whose lives have been affected by a heritable genetic condition. I’ve found that having my DNA sequenced empowers me with knowledge — knowledge that I can use in the future to help guide medical treatment away from potentially dangerous drugs, and maybe even help my health care providers save valuable time if they’re ever looking for a diagnosis. So it’s not just a result that helps me stay informed today; it’s something I will likely use for the rest of my life. To be sure, DNA sequencing is not without its limitations.* When we first started in 2012, we were limited by the cost of sequencing and the time it took to receive and interpret a patient’s results. There is still so much we don’t know about genetics, and research is ongoing to determine how DNA sequencing is best applied. But this research has unlocked new avenues for improving outcomes in recent years, and I strongly believe this trend will continue. In the midst of this DNA sequencing revolution, I’ve had the unique opportunity to explore the field as a researcher, a physician, and an administrator, and I can tell you what an exciting time this is to be learning more about your genetics. My experience has shown me that DNA sequencing is not just a thing of the future — it’s a very real and impactful tool of the present.

Keith Stewart, M.B., CH.B., is the Carlson and Nelson Endowed Director of the Mayo Clinic Center for Individualized Medicine.

1. Manolio, Teri A. et al. “Implementing Genomic Medicine in the Clinic: The Future Is Here.” Genetics in Medicine 15.4 (2013): 258–267. PMC. Web. 21 Sept. 2018.   6. https://www.cancer.gov/about-cancer/causes-prevention/genetics

2. Delaney, Susan K. et al. “Toward Clinical Genomics in Everyday Medicine: Perspectives and Recommendations.” Expert Review of Molecular Diagnostics 16.5 (2016): 521–532. PMC. Web. 21 Sept. 2018.

3. Bryce, Alan H., et al. “Comprehensive Genomic Analysis of Metastatic Mucinous Urethral Adenocarcinoma Guides Precision Oncology Treatment: Targetable EGFR Amplification Leading to Successful Treatment With Erlotinib.” Clinical Genitourinary Cancer, vol. 15, no. 4, 2017, doi:10.1016/j.clgc.2016.11.001.

4. Torkamani, Ali et al. “High Definition Medicine.” Cell 170.5 (2017): 828–843. PMC. Web. 21 Sept. 2018.

5. Borad, Mitesh J. et al. “Clinical Implementation of Integrated Genomic Profiling in Patients with Advanced Cancers.” Scientific Reports 6 (2016): 25. PMC. Web. 21 Sept. 2018.

6. https://www.cancer.gov/about-cancer/causes-prevention/genetics

Mon, Apr 8 8:00am · Genetic test solves mystery of family bleeding disorder

The Riggs family had a bleeding disorder that spanned three generations and affected the health of multiple family members. They never knew the cause of it, the long term risks associated with it, or the impact it may have on future generations — until a genetic test revealed the answer.

Finding the clues to the mystery of the family bleeding disorder began when Mallory’s father, Timothy, came to Mayo Clinic for cardiovascular surgery. Before surgery he met with Mrinal Patnaik, M.B.B.S., a Mayo Clinic hematologist, specializing in the diagnosis, treatment and prevention of blood diseases.

“I looked at his medical records and it didn’t make sense,” says Dr. Patnaik. “I told him we didn’t know what exactly he had but the fact that three generations in his family all have abnormally low blood platelets makes this very likely to be something inheritable.”

Dr. Patnaik ordered a whole exome sequencing test for Timothy and Mallory. Whole-exome sequencing tests more than 20,000 genes. That represents about one percent of a patient’s DNA – the part containing the majority of useful genetic information that can pinpoint an illness.

The test showed that Timothy and Mallory had a genetic variation in a gene called RUNX1 causing them to have an abnormally low blood platelet count (thrombocytopenia). Some symptoms of a low blood platelet count may include easy or excessive bruising, superficial bleeding, and prolonged bleeding.

“This gene mutation not only causes low blood platelets, but increases the risk for certain blood cancers to develop overtime like myelodysplastic syndrome and acute myelogenous leukemia,” says Dr. Patnaik.

According to Mallory having the answers put her at ease in caring for her son Sawyer who was diagnosed with the same bleeding disorder at 10-months-old. Today, Sawyer is five-years-old and the busiest and most active of her three boys.

“Now that we have answers I can let Sawyer be himself, and be that active little boy and do all of the things that he loves and enjoys doing,” says Mallory. “We can let our kids be kids, wrestling , playing and climbing and not being so concerned about all of the what ifs.”

According to Dr. Patnaik, a genetic test for this family was valuable in finding the answer and providing hope to the family.

“Having a correct diagnosis impacts the family’s medical care today and in the future,” says Dr. Patnaik. “We now understand how to treat them for surgeries, the family has a screening tool and we are monitoring them annually.”

Patients like the Riggs family with rare and undiagnosed conditions can spend years meeting with multiple health care providers to seek a diagnosis. They often try a myriad of treatment plans that aren’t appropriate and never find the answer to what is causing their disorder.

Helping find the answer for the Riggs family inspired Dr. Patnaik to start the first-of-its-kind Premyeloid and Bone Marrow Failure Disorder Clinic so other patients could benefit from precision diagnosis and new individualized therapies.

Mayo Clinic Premyeloid and Bone Marrow Failure Disorder Clinic

  • Offers genetic testing for the early detection of rare blood disorders and bone marrow cancers
  • Uses DNA sequencing and conducts research to solve cases with unexplained low blood counts
  • Allows for early intervention in which providers can define disease management plans
  • Identifies through research how each patient’s unique genetic makeup impacts these disorders and could lead to new individualized therapies

For more information visit ClinicalTrials.gov.

  • Search for NCT02958462 or via Google by title.
  • The clinical service and the NIH-listed research study will appear.
  • Patients can have the clinical service without doing any research.

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Mon, Jan 14 7:00am · Using brain organoids to uncover causes of neuropsychiatric disorders

Mayo Clinic and Yale University collaborated in a study published in Science to create a new model for studying neuropsychiatric disorders in early human brain development. This unique collaboration brought together Mayo Clinic’s team-based, patient-centered research with Yale researchers to discover and analyze the genetic mechanisms that may cause these disorders.

The Mayo Clinic team, led by biomedical scientist Alexej Abyzov, Ph.D., used the organoid model to analyze artificially grown cells that resemble the brain (brain organoids) to outline groups of developmental genes and regulatory elements related to the cause of autism.

Researchers know that genes implicated in neuropsychiatric disorders are active in the human fetal brain. However, systematic and comprehensive studies are hampered due to the difficulty in getting fetal brain tissue. According to Dr. Abyzov, the power of organoids is that they can be created from the skin cells of any individual.

“Using brain organoids helps to uncover the genetic underprints of these disorders and helps identify functional elements that may drive disease onset,” says Dr. Abyzov. “Our results suggest that organoids may reveal how noncoding mutations contribute to the cause of autism. By understanding the cause of autism this research may lead to assessing the personal risk for other neuropsychiatric disorders.”

The research team set out to discover gene-regulatory elements and chart their dynamic activity during prenatal human brain development, focusing on enhancers (the short region of DNA), which carry most of the weight upon regulation of gene expression.

“Over a period of time we modeled human brain development using human-derived brain organoids and compared those organoids to fetal brain tissue that had the same genotype,” says Dr. Abyzov. “This study validated that using brain organoids is a suitable model system for studying gene regulation in human embryonic brain development, evolution and disease.”

The research team is planning a larger study using organoids to compare regulation and expression during development for individuals with autism.

“This model has the potential to offer a personalized approach to each patient with autism,” says Dr. Abyzov.

Dec 24, 2018 · The priceless gift of knowing your family health history

With New Year’s resolutions right around the corner, it is likely one of your resolutions will be focused on your health. Most of us want to eat healthier foods, exercise more, lose weight, and reduce stress.
But, have you ever considered diving deeper into understanding your health conditions and how your DNA—your very own genetic fingerprint—can impact them? If so, this is an opportune time as you gather with family, to begin creating a family health history.

Begin by looking for common threads that may indicate the potential presence of a genetic variant that’s been passed down from one generation to the next in a family. To start, it’s useful to know if anyone on either side of your family has had a major medical condition, at what age it was diagnosed, how it was diagnosed, by whom it was diagnosed, and how it was treated. Drawing family trees can help you keep track of this information (trees can be compiled by using tools like the pedigree tool, such as this one found in Mayo Clinic GeneGuide™. MayoClinic GeneGuide™ is a laboratory DNA test that you can do in your own home through a saliva collection test that is mailed in for results. Consider adding information about each person, such as, current health status, age, and other details. By adding important information about each of your relatives, you are creating your family history.

Today, DNA sequencing and a detailed family medical history are often used together to help people understand their chances of developing or passing on a hereditary disease. For many people, keeping track of their family’s medical history is simply a precaution, and there are often no clues that raise concern. But for some, it can be life-changing. Research has shown that several types of cancer and heart disease could be detected and, in some cases, even prevented if those at risk are identified early.

Some warning signs of a potential disease-causing genetic variant within a family include:
○ Onset of disease at an earlier age than average
○ Family history of the same disease multiple times in multiple relatives (e.g., multiple relatives diagnosed   with an irregular heart beat)
○ Personal and/or family history suggestive of a medical syndrome (e.g., colon and uterine cancer in the same side of the family can indicate the family is at an increased odds to have Lynch syndrome)
○ Personal and/or family history of a diagnosis of a rare disease

Although DNA sequencing is a powerful way to identify individuals at risk of developing a disease, collecting family history information is still an important practice. The Centers for Disease Control advises that people collect family history information whenever possible.

Talking with your family may give you new insights into your health and what’s in your genes.
To learn more about a genetic testing experience that helps you understand how genetics can affect your heath visit Mayo Clinic GeneGuide.

Disclosure: Mayo Clinic has a financial interest in Helix.

Nov 12, 2018 · Novel data-driven approach for precision medicine

Thousands of patients’ tumors have been sequenced in the past decade, yielding a rich source of data on the changes associated with the cancer development and treatment response. However, there are no validated methods that are used in the clinic to select the best therapy. Today, Mayo Clinic researchers report an omics-guided (comprehensive) drug prioritization method tailored to an individual cancer patient.

“To date, genomic sequencing data provided to clinicians includes information on a small set of gene alterations. Recommendations for therapy do not account for many other genomic and clinical factors that might dictate tumor response,” says Mayo researcher Krishna Rani Kalari, Ph.D. “Therefore, there is an urgent need for a comprehensive approach to integrate an individual’s clinical, germline and tumor genomic data to identify and select the best treatment for a patient.”

Dr. Rani Kalari, a computational biologist, and lead author of a Mayo Clinic led study, published in JCO Clinical Cancer Informatics showed that combining multiple sources of data to predict the most effective drug choices for patients with cancer is feasible.

“We developed PANOPLY- Precision cancer genomics report: single sample inventory, an open-source computational framework to analyze complex multidimensional data to determine the most appropriate drug to target an individual’s tumor,” says Dr. Kalari. “PANOPLY approach is more comprehensive and efficient than existing single-sample analyses methods,” says Dr. Kalari.

PANOPLY includes existing FDA-approved drugs and prioritizes the drugs for patients with cancer-based on their omics profile and reports the results for oncologists to guide treatment decisions. In this study, PANOPLY was applied to in-house breast cancer datasets, and the findings were confirmed with patient-derived xenograft (PDX) models Tissues or cells from a patient’s tumor are implanted into an immuno-deficient mouse. These mouse models are used to create an environment that resembles the natural growth of cancer, for the study of cancer progression and treatment. In addition, the researchers demonstrated the flexibility of the PANOPLY framework by applying it to colon, breast, ovarian and glioblastoma datasets from The Cancer Genome Atlas.

Dr. Rani Kalari is using high-throughput tumor sequence data and teaming up with basic scientists such as Liewei Wang, Ph.D., M.D. director of the Mayo Clinic Pharmacogenomics Program, to determine whether PANOPLY can identify novel drug targets. After successful testing and benchmarking of the method using PDX repositories, they plan to work towards the ability to merge PANOPLY reports into the electronic medical records so the information is available to oncologists.

“Currently, the vast majority of patients with cancer continue to receive treatments that are minimally informed by omics data. Working with Mayo Clinic surgeon Judy Boughey, M.D. and oncologist Matthew Goetz, M.D., we anticipate that the proposed work will open new research and clinical vistas to allow a more individualized approach for the better treatment of patients,” says Dr. Kalari.

Mayo Clinic authors are:

Krishna R. Kalari, Ph.D.

Jason P. Sinnwell

Kevin J. Thompson, Ph.D.

Xiaojia Tang, Ph.D.

Erin E. Carlson

Jia Yu, Ph.D.

Peter T. Vedell, Ph.D.

James N. Ingle, M.D.

Richard M. Weinshilboum, M.D.

Judy C. Boughey, M.D.

Liewei Wang, Ph.D., M.D.

Matthew P. Goetz, M.D.

Vera Suman, Ph.D.

This study is funded in part by the Mayo Clinic Center for Individualized Medicine; Nadia’s Gift Foundation; John P. Guider; the Eveleigh Family; George M. Eisenberg Foundation for Charities; generous support from Afaf Al-Bahar; and the Pharmacogenomics Research Network (PGRN).  Other contributing groups include the U54 GM114838, Mayo Clinic Cancer Center (P30CA 15083-43) and the Mayo Clinic Breast Specialized Program of Research Excellence (SPORE- P50CA116201).

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Oct 1, 2018 · Mayo Clinic GeneGuide DNA testing application provides genetic testing, insights backed by Mayo Clinic expertise

Today Mayo Clinic launched a new effort to raise awareness for genetic testing and how that may affect health and risk for disease. Mayo Clinic GeneGuide combines genetic testing with a web-based educational application to help consumers understand information about their own genetic background.

Matthew Ferber, Ph.D.

“The Mayo Clinic GeneGuide app puts a wealth of information at a user’s fingertips from experts in genetic medicine. Consumers have access to scientifically-based data that uncover personal genomic insights, backed up with world class educational material. This helps individuals understand their results and learn the language of genetics so they can have informed discussions with their health care providers,” says Matthew Ferber, Ph.D., a Mayo Clinic genomics researcher who led the development of the app.

Mayo Clinic GeneGuide was developed in conjunction with Helix, a partner that handles sample collection, DNA sequencing, and provides secure data storage. Mayo Clinic GeneGuide returns the individual’s personalized genetic test results for select conditions and helps them understand how their genetic makeup, together with their lifestyle and environment, can impact their overall health and wellness.

Keith Stewart, M.B., Ch.B.

“Mayo Clinic is a trusted partner for consumers who wish to learn more about their genetics. With the increase in genetic and genomic testing in the consumer and clinical spaces, we believe it is important for Mayo Clinic experts to provide accurate and reliable education to people to raise genomic literacy and educate consumers/patients about genetics,” says Keith Stewart, M.B., Ch.B., Carlson and Nelson endowed director, Center for Individualized Medicine.

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Coverage from the 2018 Individualizing Medicine Conference:

Sep 24, 2018 · CIM CON -- What is the impact on health care of genome editing?

Although Mayo Clinic does not use genome editing as part of any treatment in the medical practice, genome editing has promise for treating and even curing previously intractable disorders, such as Duchenne muscular dystrophy.

Genome editing, via methods like CRISPR-Cas9 (clustered regularly interspaced short palindromic repeats and CRISPR-associated protein) can be used to facilitate the targeted modification of specific genes in living cells from the body and germline (inherited) sources. However, there are uncertain and potentially undesirable side effects to genome editing and regulatory oversight of genome editing is also unclear.

Genomic experts discussed the technological basis for genome editing, its current and potential research and clinical applications, and ethical and regulatory concerns at the Individualizing Medicine Conference: Advancing Care through Genomics. The Mayo Clinic Center for Individualized Medicine (CIM) hosted the conference at the Mayo Civic Center in Rochester, Minnesota.

What is gene editing?

Shondra Pruett-Miller, Ph.D.

Shondra Pruett-Miller, Ph.D., Assistant Member of Cell and Molecular Biology, St. Jude Children’s Research Hospital, spoke about the molecular biology behind gene editing and how it works, in addition to its advantages and limitations. Dr. Pruett-Miller explained gene knockout, which is a genetic technique in which one of a cell’s or organism’s genes is “knocked out” of the respective genome for the purpose of understanding the function of the gene.

“Using this technology in agriculture has huge implications from creating heat-resistant cattle to drought-resistant crops,” says Dr. Pruett-Miller.

However, there are still limitations to genome editing.  According to Dr. Pruett-Miller in order for this technology, and specifically CRISPR-Cas9, to reach its full therapeutic potential, every effort must be made to ensure that the genome edits are made with minimal chance of off-target effects on the structure of the gene.

From gene therapy to genome surgery

Stephen Tsang, M.D., Ph.D.

Stephen Tsang, M.D., Ph.D., Laszlo Z. Bito Associate Professor of Ophthalmology and Associate Professor of Pathology and Cell Biology, Ophthalmology, Columbia University, spoke about the current and potential research and clinical applications of genome editing. Dr. Tsang explored the beginnings of gene therapy and the path that led to genome surgery.

“Gene therapy is not the same as gene surgery, also known as gene-editing,” says Dr. Tsang. “CRISPR-Cas9 opened a new chapter in medicine.”

Gene therapy uses genes as a “drug” to treat or prevent disease by modifying, supplying or blocking gene expression or gene products that cause a condition either by their presence or absence.

CRISPR-Cas9 is a method of genome surgery that enables geneticists and medical researchers to edit parts of the genome by removing, adding or altering sections of the DNA sequence. Dr. Tsang used the example of juvenile macular degeneration as a perfect target for CRISPR-Cas9.

“The eye is the ideal system for genome surgery as well as stem cell transplantation: its relative immune privilege and accessibility, and the effects of treatment can be precisely monitored at the resolution of a single cells with non-invasive imaging allowing physicians to monitor what is happening in real time as they put the cell in and interact with eye,” says Dr. Tsang. “The eye is a self-contained area preventing CRISPR off-targeting from going to other parts of the body. As a pair organ, the eye provides the ideal treatment-control conditions and distinguishes itself as the ideal system for Individualized Medicine due to the low risk of off-targeting of genome surgery and stem cell therapies.”

The science has to advance first

Megan Allyse, Ph.D.

Megan Allyse, Ph.D., Assistant Professor of Biomedical ethics at Mayo Clinic closed the session discussing ethical and regulatory concerns related to genome editing and how they may impact clinical decision-making.

According to Dr. Allyse with the advent of gene therapy and gene surgery the National Academy of Sciences laid out clear guidelines relating to responsible science.  The National Academy of Sciences covers all facets of responsible science from transparency, respect of the person, fairness, to due care (proceeding carefully and deliberately and only when supported by sufficient and robust evidence).

“Although we have a lot of structures in place to monitor gene editing there are many unresolved dilemmas,” says Dr. Allyse.

Dr. Allyse posed several thought provoking questions to the audience concerning the ethical and regulatory issues such as:

  • “Who defines what a serious condition or disease is?”
  • “How do you handle illegitimate stem cell therapies and the exploitation of people who are desperate to solve a health issue?”
  • “Is the human genome sacred?”

The questions set up a hard conversation with those in attendance and the answers were as varied and individual as each person.

“As much as we want to get into humans, the science has to come first,” says Dr. Allyse. “Our goal is to bring people up to health as opposed to pushing them to enhancement.”

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