Genome

What Can Genomics Do For Your Health and Wellness Today?

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Disclaimer: This article is written for non scientist consumers who are interested in learning about how genomics can impact them today.
 

What’s in a Genome?

The sum total of the entire DNA in an organism is called a genome.  Genomes are composed of a series of 4 chemicals known as bases, A, C, T and G which are considered to be the building blocks or the code of life – – We can make some headway into understanding  our genomes by determining the exact order of the bases in a strand of DNA – Put simply, genomics is the decoding of all your DNA and this is done by a technique called DNA Sequencing.

Ok, so what?  If we can decode and understand our genomes, what does this mean for us – how will this impact our lives today or in the future?  In a series of posts, I wanted to share with you some ways in which genomics can impact us, on both an individual level and on a global population level.  Granted, there is a long way to go in genomic research and for sure, we don’t know everything yet but with what we do know today there some real examples of the impact genomics is having.

One of the most important aspects of knowing our genomes is the potential impact it can have on our health and wellbeing by arming us with information to make medical decisions and lifestyle choices.

Predicting Susceptibility to Cancer

Lets take cancer as an example. Cancer will affect 1 in 2 men and 1 in 3 women in our lifetime.  How can the application of genomics help?   Can we predict who is likely to be susceptible to Cancer?  In some cases yes, BRCA1 and BRCA2 are two genes, which substantially increase a woman’s risk of developing breast and/or ovarian cancer if she inherits a harmful mutation in those genes.  This type of breast/ovarian cancer often occurs at a young age, usually before menopause and the patient often has a family history. Luckily advances in genomics have enabled us to develop a predictive test for mutations in these genes.    The test was developed by a company called Myriad Genetics
 

Breast Cancer Screening

Currently this test is not used for routine screening of the population but only for those women with a strong family history of the disease.   Many of you may be thinking – why would I want to know this information?  Won’t this destroy my quality of life as I will be living in fear?  The reality is, that the best chances of surviving many cancers, is when they are detected early.    Knowing that you carry the harmful versions of these genes, can enable you and your clinician to make better medical decisions – like starting regular mammograms at 25 (10 years earlier than usual) and having cancer screening tests more frequently and taking preventative therapies. In some cases, tests like these can really save the lives of the women afflicted with these mutations.

 

Which Drugs Should I Take?

Another example where genomics has made a significant contribution in healthcare is in being able to select the right drugs or therapies for an individual.  Whenever I am prescribed a drug, I want to know, how effective will the drug be?  What is the correct dose for me? Will I suffer from side effects?  Cancer drugs for example are known to have some of the worst side effects and they only actually work in a small proportion of patients.  One report states that cancer drugs only actually work in about 25% of the patients that take them and yet the majority suffer from severe side effects.  Before you took a cancer drug and had to suffer the side effects, wouldn’t you want to know if it would even work on you?  The field of study, which defines how your genetic information can predict your response to a drug, is known as Pharmacogenomics.

warfarin flower

warfarin flower (Photo credit: hessiebell)

 

I recently learned about my genome from a company called 23andme (www.23andme.com) .  One of the many fascinating things I found out was that I was sensitive to a drug called Warfarin.

Warfarin is a blood thinner often prescribed to people who are at high risk of blood clots.  It’s really important to get the dose of this drug right for the patient, too much and the patient can bleed to death, too little and the patient will be at risk of clotting, heart attack or stroke.  I share this information with my physician because people like me, with an increased sensitivity must be prescribed a lower dose to prevent bleeding.  It’s amazing that I can have knowledge of this information and these risks before ever needing to take the drug.  In this case, I can actually avoid trial and error medicine all together.

 

Dodging The Disease Bullet

How about the ability to avoid diseases all together?  Many complex diseases like certain types of cancer, cardiovascular disease, obesity and diabetes may have genetic components to them, but your lifestyle and environment can have very strong influences on the outcome and maybe even delaying the onset or avoiding the disease all together.

Melanoma is a prime example of this.  Melanoma is a skin tumor that is responsible for the most skin cancer deaths.   Research has shown that exposure to UV light from the sun or tanning lamps hugely increases the risk of developing melanoma.  If you were aware that you carry an increased genetic risk of developing this disease, wouldn’t you want to take measures to control or limit the environmental or lifestyle factors that can increase your risk?  For Melanoma, there are some simple measures to take to avoid this like using high SPF creams every day on all the exposed areas of your body or avoiding being outside in strong sunlight, or wearing protective clothing.

Eliminating Disease From a Population

Another example of using genomic information to avoid disease, is in carrier screening for recessive disorders.  There are a class of diseases that an individual can be a carrier of genetically, although not actually suffer from the disease themselves.  Examples of these diseases are Cystic Fibrosis, Duchenne Muscular Dystrophy and Tay Sachs disease.  If two people who are both carriers of the same mutation have children, there is a very high chance that one or more of their children could be afflicted.  This is particularly prevalent, although not exclusive to, communities or cultures where Consanguineous or blood relation marriages occur (often first or second cousins).

A simple genetic test can tell you if you and/or your partner were carriers of mutations for these genes.  Knowing this information in advance would enable you to make informed reproductive decisions.  In the case of a couple where both are carriers of mutations for a specific disease; options such as assisted reproduction or IVF exist.  During the IVF process, the embryos can be screened for physical or genetic abnormalities before being implanted.  This is known as PGS – Pre Implantation Genetic Screening.  The Ashkenazi Jewish community, are known to have been afflicted with many of these recessive diseases in their populations.  However, through diligent screening programs, genetic counseling and assisted reproduction programs they have managed to reduce the incidence of a neurodegenerative disease known as Tay Sachs by 90%

Knowledge is Power

These are just a few examples of what genomics can do for you today. We are of course, a long way from understanding everything about the genome and the factors that influence it and we are learning more and more every day.  However some things that we do know today, really can impact your health and wellness.  When it comes to your genome, knowledge really is power.

In future posts I will share how Genomics is impacting us today in areas other than health and give you a view into the next frontiers for genomics …. stay tuned!

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PATIENTS’ GENOME INFORMATION TO BE INCLUDED IN ELECTRONIC MEDICAL RECORDS

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Amazing Collaboration between Coriell Personalized Medicine Collaborative  and Ohio State University which will bring personal genomic information closer to the individuals via the health care system.  Congrats to both sides for this great accomplishment.

FOR IMMEDIATE RELEASE

February 8, 2011

PATIENTS’ GENOME INFORMATION TO BE INCLUDED IN ELECTRONIC MEDICAL RECORDS

Coriell Personalized Medicine Collaborative to bring Genome-Informed Medicine into the Clinic at Ohio State CAMDEN, N.J. – Coriell Institute for Medical Research announced a partnership today in which Ohio State University Medical Center physicians are incorporating genetic risk information into their patients’ electronic medical records, through their participation in the Coriell Personalized Medicine Collaborative® (CPMC®) research study. The goal of the CPMC study is to understand the utility of genome information in patient care and develop best practices for the field. “By providing personal genetic risk data directly to both physicians and their patients, we have a unique opportunity to examine how personalized medicine can be used in the clinic,” said Michael Christman, Ph.D., president and CEO of Coriell. “This is an important step toward effectively integrating genome information into routine medical care.” The Coriell/OSU Medical Center partnership brings together two leaders in the emerging field of personalized medicine: Coriell, a renowned non-profit research institute engaged in the study of human genetic diseases and translation into genome-informed clinical care, and OSU Medical Center, an institute dedicated to saving lives and improving the quality of life by translating scientific discoveries in the lab to a patient’s bedside. The collaboration involves 30-35 Ohio State cardiologists and primary care physicians and 1,800 of their patients who have been diagnosed with congestive heart failure or hypertension. The patients’ genomic information will be entered into their electronic medical records and observations will be made as to how their physicians use the personalized genetic risk information to make clinical care decisions. The study will reveal whether genome-informed medicine has utility in practice, and how likely doctors are to use the information when it is made available to them. “We are providing physicians with the technology and educational tools to deliver care that is customized to the needs of each individual,” said Christman. Congestive heart failure will affect 5.7 million Americans and lead to 300,000 deaths this year. Hypertension affects nearly one-quarter of adults in the nation. As chronic heart disease patients are often treated with multiple medications, personalized medicine can help physicians make the best prescribing decisions and also identify disease risks, resulting in safer and more accurate care for patients. In addition to monitoring physician behavior and knowledge, the impact of genetic counseling on patient behaviors will also be studied. While the CPMC offers genetic counseling to all participants free of charge (via phone and email), the Coriell/OSU Medical Center collaboration requires some participants to attend an in-person genetic counseling session. Participants will be asked to complete a series of surveys regarding the understanding of their risk, knowledge of genetics, what they did after learning of their personalized risk information, and with whom they shared their results. Differences between the two groups will provide insight into the role genetic counselors play as educators in personalized medicine. The executive director of Ohio State’s Center for Personalized Health Care, and a co-investigator on the Coriell/OSU Medical Center partnership, Clay Marsh, MD, recognizes the need to engage patients to become more actively involved in their own healthcare management and sees the Coriell collaboration as that opportunity. “Overall, we want to improve people’s lives through healthcare that is predictive, preventive, personalized and participatory,” said Marsh. ### CONTACT: Coriell Institute for Medical Research Director of Communications & Development Courtney Kronenthal, Ph.D. ckronenthal@coriell.org 856-757-9752 About Coriell Institute and the CPMC research study – Coriell Institute for Medical Research (www.coriell.org) is an internationally known, non-profit, biomedical research institution headquartered in Camden, NJ. Founded in 1953, Coriell is the world’s leading biobank resource for biological materials, home to the Coriell Personalized Medicine Collaborative® (CPMC®) research study, and an active player in the field of induced pluripotent stem cells (iPSCs). The CPMC research study is examining the usefulness of personal genome information in health management. The forward-looking, collaborative effort involves volunteer study participants who submit a small saliva sample for genome analysis, answer online health questionnaires about family history, lifestyle and personal medical history, and in return, receive personal risk assessments for potentially actionable health conditions as well as responses to commonly prescribed medications. Coronary artery disease, lupus, melanoma, age-related macular degeneration, prostate cancer, iron overload, and type 1 and type 2 diabetes are currently reported. Future releases include genetic information related to medication response, such as how patients react to Plavix®, a commonly used drug for prevention of blood clots. Coriell has established partnerships with several hospitals and health service providers, including Cooper University Hospital, Fox Chase Cancer Center, Virtua Health, Helix Health of Connecticut and Ohio State University Medical Center. Launched in December 2007, the study will initially enroll 10,000 participants, and also aims to utilize participants’ medical history and genetic data to discover unknown genetic sites that affect susceptibility to disease and response to medications. For more, visit: http://www.cpmc.coriell.org About OSU Medical Center – Ohio State University Medical Center, located in Columbus, OH, comprises six signature programs focused on cancer, critical care, heart, imaging, neurosciences and transplantation, where each program provides science-based and individually tailored patient care. Ohio State educates a large percentage of the region’s physicians and provides advanced training and continuing education for clinicians. For more, visit: http://www.cphc.osu.edu/ Courtney Kronenthal, Ph.D. Director, Communications & Development Coriell Institute for Medical Research 403 Haddon Avenue Camden, NJ 08103

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What will be the impact of sub-$100 100% complete genome sequencing?

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What will be the impact of sub-$100 100% complete genome sequencing? 1 answer on Quora

What will be the impact of sub-$100 100% complete genome sequencing?

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My Review of Kevin Davies’ The $1000 Genome

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I just finished reading the 1000 dollar genome and I loved every page of it.  It documents the last ten years of genomics and the major accomplishments in genomic discovery and molecular technologies which will culminate in our ability to sequence an individual’s complete genomic sequence in a few hours and for less than $1000.  This is the holy grail of genomics.   While reading it I actually had palpitations of excitement at the thought that we are very nearly there and that this momentous achievement will happen in my lifetime.   The implications for science and medicine are huge.

You can’t really talk about genomics and molecular technologies without talking about personalized medicine and Direct to Consumer (DTC) genomics and Davies covers both eloquently.  He describes the innovations that will make the coveted $1000 genome a reality as well as the major characters in the field who have contributed to the genomics revolution and the companies that are emerging to commercialize these technologies and those that are bringing genomics to the consumer. You do need to have some scientific background to understand the technologies outlined, but even the non scientist will love the stories of the characters and more importantly the implications that knowing your genome can have for you.

Direct to consumer genomics is a very hot topic, from a regulatory perspective, from a privacy perspective, from a genetic ownership perspective and from a clinical utility perspective and Davies addresses all of these issues objectively.

Some of things I particularly liked about the book.

  • The book is very current; events that occurred just 8 weeks ago are described in detail here.  While the steps towards the $1000 genome have been a culmination of discoveries over many years, Davis focuses on the events of the last two years where the biggest technology leaps have occurred while cleverly jumping back to events in history to create context.
  • The story of 23&me is particularly inspirational to me; the author has obviously spent a good amount of time with the co founders Linda Avey and Anne Wojcicki and has captured their history, their vision and their passion superbly.   Anne Wojcicki is quoted as saying ‘we are at the beginning of a revolution that combines genomics and the Internet’.  A number of statements like that attributed to the 23&me co-founders are scattered throughout the book, reminding the reader that this truly is a revolutionary time in genomics.
  • The story of 23&me in the $1000 dollar genome, highlights my own personal opinion that 23&me is an excellent combination of
    • Enabling the public to benefit from genomic technology
    • An educational resource for making knowledge on genomics accessible to  the public
    • A marketing machine, using some of the most novel and innovative marketing methods in the biotech industry, from spit parties to a very engaging integrated social media campaign.
  • The humanization of many of the people he describes in the industry.  Often, these are just faceless characters we read about, and given the subject matter it would be quite easy to portray these visionaries as just crazy scientists with extreme ideas that belong in science fiction movies.  Many of these people, I have been lucky enough to meet and work with.  Davies captures their essence well, highlighting the human side of their vision and describing their personalities, their challenges, the diseases that have afflicted them and their families and even their own fears when coming face to face with their genomes.
  • Leroy Hood‘s perspective that the $1000 genome will bring about a wave of personalized medicine that he calls P4 medicine, personalized, predictive, preventative and participatory with a focus on health and wellness not just disease.

Throughout the $1000 dollar genome, Kevin Davies describes a plethora of examples of personalized medicine success stories, the impact that a genomic scan has already had on individuals knowing their genome has in some cases saved their lives.

The exploration of personalized medicine may seem like a vision of the future but the $1000 genome corroborates my view is that it is here now, it has saved lives, changed lives and it can only get better from here.

Disclaimer: All opinions expressed in this blog are my own and not reflective of my employer’s views.

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