Oh Baby: The next step in DNA sequencing

Somewhat ironically, as a geneticist, my favorite Sci-Fi movie of all time is Gattaca.  For those that have not seen the movie, it's a story set in the future where most babies are born with the help of genetic  preimplantation diagnosis so as to select out undesirable traits.  Children conceived the traditional way are discriminated against because they are thought of as inferior.  Moments after children are born, a genetic profile is run on them and predisposition to any illness and disease is determined.  This information is then used against these children in all aspects of life.

We've discussed several times on our blog about the many ways that personalized medicine and DNA sequencing is the wave of the future.  I believe it will even become the standard of care.  The question remains, however, just when does a person get their DNA sequenced?  Screening babies at birth could potentially provide the most useful information as their genetics could be used to make medical decisions prior to any illness manifesting or any medication having an adverse reaction.  There is, however, a fine line between the dystopia of the world presented in Gattaca and the usefulness of genetic information in aiding modern day medicine.  A new project called BabySeq aims to determine just this.  This study was recently funded and will examine the risks and benefits of comprehensive genome sequencing in newborns from both a physician and parent standpoint.  Although a relatively small study and only the tip of the iceberg, it should be an interesting nonetheless to see the results.

Personalized Medicine is a Two Way Street

I recently had a “conversation” with someone I know about a medication he was taking for a sinus infection.  I put conversation in quotes because this person, a fairly well educated individual, had no idea what medication he was prescribed and was taking it blindly.  I know I am the opposite end of the spectrum and am the girl that reads every word of the medication package insert, but still.  To not even know the name of the medication you are taking is, dare I say, irresponsible.  And yet we wonder why physicians prescribe medications that interact with others causing potentially harmful adverse drug-drug interactions when there are individuals walking around that have no idea what pills they are popping.  How could a doctor know medication A might interact with medication B if the patient can’t even tell you they are taking medication B?

I hear this a lot from people I meet—“The doctor knows best so I’m just going to take what she gives me or do what she says”.  Yes, our medical professionals are the experts, but no one is exempt from making mistakes.  And who better to take charge of our own health than ourselves?  It is naïve to think that the future of health care should be left in the hands of people that see us just a few times a year, if that.  As the medicine paradigm shifts towards being more personalized, we the consumer need to recognize that this is a two way street.  As health care providers tailor tests, medications, and treatments to our own individual unique genetic makeups, we as the patient need to also tailor our own view on healthcare and take steps to personalize our experiences as well.  This is different than Google-ing symptoms and making self-diagnostic predictions about what disease you might have.  But it does mean being responsible for your own health and wellness and knowing your body.  Know why your physician is prescribing you a medication and what it is treating.  Know why your doctor is ordering a test and what it will tell her.  Keep records of your health history and make note of anything out of the ordinary.  This information can be not only useful to yourself, but also to any health care providers you may see in the future and can help them personalize your care.  Being responsible for your own well being is the best step you can take towards living a healthier life. 

The Human Genome Project

One of my many “hats” at my university is to teach 1^st year veterinary students about the wonderful world of genetics. The great thing about 1^st year students (or college students in general) is that they tend to get bored. So this year, I was really doing my research, trying to find interesting and fun facts about genomics to hold and keep their attention. I stumbled on some research about the human genome project that I thought ya’ll might be interested in.

In order to determine “mutated” genes or gene alleles that cause cancer or disease or whatever aliments you’re interested in, one needs to know what the “correct” gene looks like. In order to do that properly, every single gene, which is greater than 40,000, of the human genome must be identified (also termed sequenced). The genetic code is a bunch of As, Ts, Cs, and Gs (termed bases), 3.3 billion of them to be exact. So the process of determining and reading 3.3 billion ATCG’s was not only a long process, but also a costly one. The project took 13 years for a team of scientists to complete and cost $3 billion dollars, so about $1 and 0.1 seconds per base. With such a large investment of time and money, it got me thinking about how the information was collected and how useful it was…

In order to read the bases, you need to have someone’s DNA. So, who was the lucky guy or gal that donated their genome for this massive project? I’m not going to get into the ethics of this, but did find out that scientists wanted to keep the identity of the DNA donor anonymous so they got 40 people to donate blood (half males and half females), and randomly selected 2 females and 2 males to use. However, the DNA quality of the 4 samples was very different and the majority of the genome sequence was from a single donor, only to be identified as RP11. Therefore, this “RP11” person’s genes are now known as the “normal” genes used to compare everyone else’s genes to. What is to say this RP11 is “normal” and his/her genes are the “correct” ones?

I think our society has progressed significantly in the last 20 years, but many questions still remain unanswered. There is just so much genetic information in a single person, that we can’t possibly know all the answers. If it took 13 years to read the genome of a single person, think about how long it would take for everyone to get their DNA read. As a scientist, studies like these are very interesting and I hope I was able to hold your interest too. Just a little fun food for thought for a Thursday afternoon!

Is DTC good for the Consumer? Part 2: LDTs

In the wake of the Myraid Genetics ruling, the doors opened for more companies to commercialize genetic tests and it finally happened--crowd funding of a genetic testing company.  Specifically a Direct to Consumer (DTC) genetic testing company.  See this article and this website.  For a mere $99 you can have your genotyping run to determine which medications may work best for your genetic metabolism issues.  But can you trust the results?

One of my first blog posts was about direct to consumer testing and the perils it poses when this information is used without a clinician's oversight.  That is just part of my issue with DTC testing. So far, the FDA has been rather wishy washy about regulating "lab developed tests," known as LDTs, for genetic testing.  This means that every lab can develop their own genetic test protocol--no standardization and no FDA oversight.

Now there is the College of American Pathologists (CAP) and Clinical Laboratory Improvements Amendments (CLIA) and they are supposed to be the governing bodies for LDTs, but why not make each test get FDA approval?  Especially if, as Genome Liberty advocates, we should be acting upon the information gained from a DTC LDT.  Would you want the device that gives you a blood sugar reading to be based on a LDT with no standardization or oversight?

Some will argue this will limit competition as FDA approval is expensive--so many of these pop up DTC labs would disappear and the cost of genetic testing will rise. Good, they should.  In my opinion, LDTs should be regulated by the FDA and should rise to the level of scrutiny you would expect from a lab test where clinicians rely on the results to make patient decisions.  Where consumers rely on the results to make lifestyle changes.

On June 5, 2013, the FDA Commissioner Margaret Hamburg probably said it best: Hamburg warned that "advanced diagnostics to make critical, potentially life-altering treatment decisions exposes patients to obvious risks if these tests do not perform as expected," and "false results put patients at risk for a mis-diagnosis or a wrong diagnosis that could result in inappropriate treatment or no treatment at all."

1.  BRCA testing can identify high risk breast cancer patients, so when a woman makes the agonizing decision to remove her breasts because she has done BRCA testing, THAT TEST BETTER BE RIGHT!

2.  Genetic tests are available to determine metabolism of certain blood thinners, but if the dose is too low you could get a blood clot (stroke) and it can cause hemorrhages if the dose is too high, so when a doctor decides to alter your initial dose of a blood thinner because your genetic test says your metabolism is different from normal, THAT TEST BETTER BE RIGHT!

3.  Codeine is metabolized into morphine and high doses of morphine can be lethal to a child, so when a child is given the normal dose of codeine for pain management because their genetic test says they are a normal metabolizer, THAT TEST BETTER BE RIGHT!!!

You have no way of knowing the level of experience and education of the person developing the LDT, the quality control standards used to verify test accuracy and repeatability or the overall reliability of LDTs.  I propose a higher level of standardization and oversight.  If a company stands behind its LDTs, they should have no problem getting FDA approval.

Instead of bemoaning that FDA approval slows down innovation, the FDA should come up with a way to categorize risk and streamline the approval process.  Faster innovation isn't always better innovation.  Quality over quantity.

Off soapbox now!
-Christina

The Genetic Athlete

Much attention has been paid to the recent decision by the American Medical Association to make obesity an official disease.  Although certainly lifestyle choices play a part in this, in some people genetics clearly play a role.  So what about the other extreme- do genes also play a role in athleticism?  The answer is similar - clearly it is a combination of lifestyle chocies and genes that make a great athlete.  As an avid CrossFitter for over 4 years now, I have come to accept that my athletic ability is limited no matter how hard I train.  Watch any sport at the professional level, however, and you will notice that often athletes, especially within the same sport, have similar body types and abilities.  Is this due to years of training and conditioning, or does DNA play a role?  In a new book  titled ‘The Sports Gene’ (which I caution I have not yet read but is on my list of to-read), author David Epstein explores this very question.  It may not be a surprise that the answer is yes, but it appears the things we may assume are genetic are not, and vice versa. 

Given DNA clearly does play some role in determining who becomes a great vs. mediocre athlete, however, the bigger question is will this translate into personalized medicine in the future?  I can imagine a situation in which knowing this genetic information might help doctors treat injuries or help those of us not as endowed with athletic genes to overcome some of our biological barriers.  Perhaps knowing this information will also help those with musculoskeletal disorders function easier.  Further still, will genetic information be used in the future to screen athletes as part of tryouts?  It is an interesting question that remains to be seen.

Using Genetics to make the Flu virus more deadly

The human genome is very complex, consisting of 23 pairs of chromosomes, that contain over 3 billion base pairs of DNA, that encode for over 20,000 genes. All 20,000 of these genes have a function, and allow us to perform our daily tasks. Just like humans, viruses also contain a genome, containing DNA that allows it to infect plants or animals, proliferate exponentially, and infect other cells. Unlike humans, viral genomes are small and simple since they infect host cells and use their host to carry out most daily functions.

A few years ago there was a deadly outbreak of the H5N1 subtype of the flu virus. The media referred to this highly-contagious and deadly strain of flu as the "bird flu" since it was only able to transmit from bird to bird. Even though this strain of flu could only infect birds, it was very deadly and caused a panic in people who feared that the virus could mutate rapidly into a highly-contagious and deadly HUMAN virus.

The H5N1 flu virus has 13,500 base pairs of genetic information, that encode for only 11 genes. So you can see, viruses are much less complex then humans. In fact, the genome is so small that scientists in labs can re-create the genome and use genetic tools to introduce mutations to change the gene functions of the 11 viral proteins.

Last year, a group of scientists who feared that this "bird flu" could easily cause a pandemic outbreak in humans, began to study the 11 H5N1 genes. They used genetic tools to introduce single base pair changes in the H5N1 genome. They found that by creating as little as 5 mutations in the virus they could create a virus that was capable of infecting mammals. Therefore, these scientists have used genetics to create a virus capable of causing a world-wide pandemic flu outbreak. 

If you want find out all the details to make your own deadly virus, the article can be found here:

Airborne Transmission of Influenza A/H5N1 Virus Between Ferrets 

Yes, these scientists have good intentions and won't release it into the population. However, these types of studies illustrate the power of genetic mutation and feasibility to create deadly pathogens/toxins to be used in terrorist or warfare attacks.

Finally, here is a little video from Hank with his interpretation of  the mutant flu. Enjoy!

Medicine's Holy Grail

 

A few weeks ago, CBS Sunday Morning featured a segment about Alex's Lemonade Stand and advances in treatments for childhood cancer.  It is a truly moving human-interest piece that touches also on the Holy Grail of medical research.  The cure for cancer.  You may be wondering, “what’s the cure for cancer got to do with personalized medicine?”  This is where I tell you – it’s got EVERYTHING to do with it.

For all of the advances in medicine over the past century, one of the biggest mysteries is still cancer.  Medical science is only just beginning to understand and explain why cancer happens, and even then, it’s not the same for every person or every form of cancer.  Going back to the segment on CBS Sunday Morning, one of the things discussed is the discovery that certain types of cancer seem to be linked to a mutation in a gene called anaplastic lymphoma kinase (ALK).  More and more cancer diagnoses are starting to sound like alphabet soup: HER2 positive or negative breast cancer; BRAF mutation in melanoma; chronic myelogenous leukemia (CML) caused by BCR-ABL; colon cancer with or without K-ras mutation.  It can be confusing and it is definitely overwhelming, but here’s what you need to know:  THIS IS GREAT.  Why, you ask? 

Here’s why…One of the biggest shifts in recent years is how cancers are treated and managed.  Therapies and treatments have moved from a generalized “attack every fast growing cell” to a targeted approach.  Having this genetic level of specificity allows modern science to get at the root of what’s causing the cancer cells to grow and thrive.  For example, the ALK mutation that drives certain types of lymphoma seems to be turned off by the drug crizotinib.  In some cases, the treatment has been so successful, that the cancer is quite literally GONE.  Finis. Cured.  Those are some pretty amazing results.  We can get those results because the therapy is acting at the source in a highly specific manner.  Another positive outcome to therapies working at the source is that the side effects are far less than what you see with traditional chemotherapy.  Newer therapies have mild to moderate side effect profiles allowing patients to continue with daily life versus their older chemotherapy counterparts.  Sadly, those cases where cancer disappears completely are still the exception.  Many treatments still fail and cancer progresses.  Treatments that work amazingly well in some patients don’t work at all in others, and scientists don’t always know why.  More research and understanding will be necessary before that miracle cure is found…but there’s promise.

The drug development pipeline is rich with products that are highly specific to a disease type.  Therapies for diseases you’ve likely heard of: fibromyalgia, lupus, multiple sclerosis; and diseases you’ve probably never heard of: Fabry Disease, hereditary angioedema, alpha-1 antitrypsin deficiency.  One of the very exciting things about the drug development pipeline is that ~40% of it is cancer therapies.  Even more exciting is that many of these therapies are oral, not infused.  Unfortunately, the downside to these highly-specific therapies means that they treat only small numbers of patients comparatively.  It doesn’t sound so bad until I tell you that the price goes up when the number of patients treated goes down.  Many of these therapies are at or above $100,000 per year.

In subsequent posts we can dig into the specifics of some of these new therapies.  A lot of these new products entering the market come with companion testing that is required in order to qualify for treatment.  Personalized medicine is here to stay.  We’ll help you become educated.  Ask us your questions, tell us your thoughts.

-A

Myriad Supreme Court ruling: What does it means to the average patient?

In a landmark decision the Supreme Court gave its ruling in the Myriad case today.  Without going into the drawn out details, let's talk about what are the practical implications to the average patient.

1.  You can't patent DNA or a naturally occurring gene variant on a piece of DNA (known as a single nucleotide polymorphism or SNP)

Previously, the USPTO had allowed so called "gene patents" to issue.  In the case of Myriad, they patented the identification of the SNPs on BRCA1 and BRCA2 that indicated an increased risk for certain breast and ovarian cancers.  Any other company who tried to sell this diagnostic test was shut out of the market as Myriad had exclusivity to sell the test by virtue of their patents.  Now those patents and any others like them are invalid.

This means that other diagnostic companies may offer the BRCA1 and BRCA2 tests.  Naturally, with more companies offering the test, the cost of the test should go down.   This is a win for consumers in that it lowers the price of the test and provides more options for purchasing the test.

What will this ruling ultimately do to the molecular diagnostics market for tests based on SNPs?  That remains to be seen.  Some argue that without the patent protection, there is no incentive to commercialize the tests because the value of selling the tests goes down dramatically.  Others point out the without worrying about patent infringement suits, scientists will be free to continue research efforts on SNPs resulting in more products to sell.   Since most molecular diagnostics currently being sold are not based on patented technology, I actually doubt there will be much effect on the sales of these tests, nor will this ruling be seen as catastrophic to most companies currently selling genetic testing.

2.  You CAN patent new methods to extract naturally occurring DNA.  The methods already used are well established and they generally work well.  I'm not sure if we will see many patents relating to this in the near future, but at least the possibility has been allowed by the Supreme Court.

3.  You CAN patent methods of treatment based on the knowledge from naturally occurring DNA.  One example that comes to mind are algorithms that take both genotypic and phenotypic information to predict your risk of developing certain types of cancer.  I think we will see many more patents in this area.  As our knowledge base grows about what SNPs affect or predict certain conditions, methods of using that information for patient treatments will grow as well.

4.  You can patent cDNA-known as complimentary DNA. I honestly don't know how this is useful, so I'm turning this blog post over to my colleague with the PhD in Human Genetics!  I do know that Myriad stock went UP today because investors focused on this partial win for cDNA patenting rather than the fact that their BRCA patents are now invalid.

Dr. M-take it away!

-Christina

cDNA, or complementary DNA, is DNA that has been reverse engineered from messenger RNA (mRNA).  Normally in the body, DNA is used as a template to make mRNA which is then used as a template to make the proteins needed in your body.  There is a significant amount of manipulation involved in the process so that the protein at the end is nothing like the DNA sequence that started it all.  Although certain viruses such as HIV are able to partially reverse this process, it doesn’t happen naturally in the body.  Scientists, however, have been able to replicate the process used by these viruses and make cDNA from mRNA sequences.  cDNA is different than normal DNA because it lacks intervening sequences called introns that normally break up the coding sequence which is used to make the mRNA.  Because of this, the Supreme Court has ruled they are not “natural” DNA sequences, and therefore CAN be patented.  

The importance of this to genetics is that often cDNA sequences are used as probes in certain diagnostic techniques such as microarrays.  Microarrays are common tools used in disease research to enable scientists to look at the differential expression of genes between, for example, cancerous and non-cancerous cells.  Additionally, if scientists want to express a certain protein in a cell that does not normally express that protein, they can introduce cDNA into that cell and the cells is subsequently able to express that protein.  This is often done in disease research to see how a cell behaves when more or less of the protein is present, or to see how the cells behave when the normal vs. variant protein is expressed. This is incredibly  useful information when looking for targets to develop a diagnostic to treat a certain disease.

As it stands now, if a scientist wants to use cDNA, they can make the cDNA sequence from scratch, or sometimes order from cDNA “libraries”.  Patents on such sequences may make using these cDNA sequences more difficult, which could hinder disease research.  On the other hand, big companies like Myriad potentially have a vested interest in developing therapeutics for disease processes if they own patents for certain cDNA sequences.  As such, more money could be funneled into big pharma research for specific diseases directly linked to these specific cDNAs.  It will be interesting to see how it all plays out.

-Dr. M

Open Wide (for personalized medicine and dentistry)

Some people fear the dentist and rarely go.  Others, like me, love going to the dentist and can’t wait for their next appointment.  Despite this, I recently had 2 cavities filled.  So what gives?  It’s no surprise that regular dental care helps prevent periodontal disease and cavities, but there must be other risk factors involved. 

Over $100 billion dollars a year are spent on dental care, 76% of this going towards preventative care.  The present model of prevention assumes all adults are at equal risk for dental disease and therefore should go biannually for treatment (aka the one-size-fits-all approach to dental medicine).  Yet, is it really necessary?

A new study published this month suggests that there is actually little evidence to support the twice a year treatment protocol and that instead, preventative dental care should be determined by a combination of genetic and conventional risk factors.  They stratified individuals at high and low risk of developing periodontal disease based on their diabetic and smoking status in combination with their interleukin-1 genotype (all known factors for developing periodontal disease), and then looked at tooth loss based on periodontal disease for those receiving cleanings once vs. twice a year.  They found in the low-risk individuals, one cleaning a year was just as good as two, whereas in the high-risk individuals, two cleanings a year were better than one.  More proof that personalized medicine, and in this case personalized dental medicine, will be the wave of the not-so-distant future.

-Dr. M

Is "Direct-to-Consumer" good for the consumer of genetic testing?

This morning there was an invitation to a conference at the top of my inbox that said "Direct-to-Consumer (and how to move the elephant of change)."  The Consumer Genetics Conference was billed as a "one-of-a-kind event that draws together a dynamic community of scientists, clinicians, technology innovators and patients to discuss the burning issues around the analysis and delivery of genomic results directly to patients and consumers."

Privacy issues aside, as an attorney I immediately wonder about the risks of arming the everyday consumer with genetic information without counseling from a clinician or genetic counselor.  I immediately think of the experience of Francis S. Collins, a well known pioneer of personalized medicine.  In his book, "The Language of Life:  DNA and the Revolution in Personalized Medicine," Dr. Collins submitted his DNA sample to three companies:  23andMe, deCode and Navigenics.  While the genetic variant results that all three companies tested were the same, sometimes the interpretation of what to do with those results were shockingly different!!

23andMe and deCode looked at the exact same DNA variants related to the metabolism of Coumadin, a common blood thinner.  23andMe reported "increased sensitivity" indicating that his dose should be adjusted downward to avoid toxicity, while deCode suggested he would only need an "average dose." Same test, different interpretation, what gives?  Without the complete patient and family history-how can you make a blanket statement that he would need an average dose?  There are several clinical factors that are involved in prescribing Coumadin that should be taken into consideration before changing a dose based solely on genetic information.  What if the consumer took the suggestion of an average, increased or reduced dose literally without consulting their doctor?  The results could be tragic.

When looking at Dr. Collin's risk for prostate cancer, 23andMe suggested lower than average risk, deCode suggested a slightly elevated risk and Navigenics predicted a risk of 24% compared to the baseline risk of 17% for most men.  Why was this?  As it turned out, 23andMe only tested for 5 variants known to affect prostate cancer risk, deCode had tested 13 and Navigenics had tested 9.  No company tested the complete set of 16.  Lucky for Dr. Collins, as a trained practitioner with genetic knowledge, he was able to look at the entire data set of genetic variants and determine that he probably should be paying closer attention to his prostate cancer risk than the average man, including testing and preventative measures.  If he had taken the 23andMe test result at face value, he may have ignored his higher risk condition.  This could easily happen to the average consumer when looking at risk predictions for developing diseases from tests that do not provide the entire data set necessary to assess that risk.

These are just two very simple examples of how direct-to-consumer genetic testing has serious pitfalls.  Predictions for ancestry and non-medical traits contained on these reports, such as ability to taste bitter foods, is entertaining.  Yet, even Dr. Collins noted that while 23andMe predicted he would have brown eyes, he definitely has blue eyes!

The bottom line is this:  Consumers may use the information on these reports to make medical decisions without even consulting a medical professional!

In this attorney's opinion, that's bad for the medical profession, consumers and the future of personalized medicine.  My sincere recommendation is to always have genetic testing for medical traits ordered through your physician's office after they determine it is medically necessary.  Further, make sure your physician is able to interpret and recommend a course of action based not only on your genetic variants but with taking into consideration your entire medical and family history.  If your physician is not savvy on genetic testing, please suggest they seek some continuing medical education on the subject.

Geneticational, LLP is currently providing public speaking events and educational seminars on genetics in personalized medicine and will be offering educational and course materials through its website in the near future.  Your physician and/or the physician practice group may request information on seminars and courses offered (some for CME credit) by submitting an information request through www.geneticational.com.

What's for dinner?

Did you know that most, if not all, the food you eat has been genetically selected for your eating pleasure? Shockingly true fact! Just like humans, cells of plants and animals contain DNA, the genetic blueprint of the organism. Within the DNA are genes, these genes code of everything from sugar content in fruit, to growth rate in corn, to meat tenderness. And what makes one apple sweeter and more appealing to eat then the next apple are variations in the genes that code for sugar content. These subtle variations in sweetness genes are termed polymorphisms. And over the years, farmers have selectively bred fruits/vegetables/food animals for the characteristics that are desired. This selective breeding process has allowed for better quality food, lower priced food, and increased supply of food. Thus, farmers have used genetics to improve the food industry long before humans have harnessed its power to treat disease/illness.

So, next time you sit down to eat that tender steak or enjoy that juicy orange, thank the farmers for genetically selecting the best meat/produce for you and your family. Knowing that we have the power to understand not only the genetics of our food supply but also the genetics of our own body, doesn’t it just make sense that we should use it to create the best life we can? No humans can’t selectively breed for ideal gene variants (also known as polymorphisms), but we can determine which variants we have and select the best medications or medical treatments for optimal outcomes.

From
http;//genomealberta.ca

BRCA do or BRCA don't?

Many women look to their favorite celebs to find out what the latest trends in fashion, music, movies and the like are, but what happens when that trend includes a double preventative mastectomy?  Angelina Jolie did it, does that mean I should too?  Women across the country are now debating if they should also get the BRCA (pronounced brack-ah) test.  My answer to you would be, that depends.

What is the BRCA test?
The BRCA test looks for harmful variants in your DNA in two genes named BRCA1 and BRCA2 which stand for BReast CAncer susceptibility genes 1 and 2.  BRCA genes are what are known as tumor suppressor genes and they make proteins that help with repairing damage to DNA.  If harmful variants are present in these genes, the proteins they make don't function properly, and therefore DNA damage is not repaired.  Over time this can lead to the development of cancerous tumors.

What does it mean if I have a BRCA variant?
Women that have harmful variants in BRCA1 or BRCA2 have over their lifetime a 5x greater risk of developing breast and a 10-30x greater risk of developing ovarian cancer than the average woman, and they often develop these cancers at an early age.  Furthermore, these women are also more likely to develop other types of cancer.  Men with BRCA variants are also at an increased risk of developing breast cancer and other forms of cancer.  That does not mean; however, that women who have a harmful variant in BRCA1 or BRCA2 will definitely get cancer, it just means she is at a great risk to develop cancer.

How common are BRCA variants?
The interesting thing about BRCA harmful variants is that they do not occur very often.  Statistics vary but suggest only 1 in 300 to 1 in 800 people have mutations in these genes.  Breast cancer, however, will affect approximately 12% of all women, so how can this be?  There are actually many different causes of breast cancer development, not just mutations in BRCA genes and in fact, BRCA genes are only responsible for about 5-10% of all breast cancer cases.  Therefore, most women who develop breast cancer will not have harmful variants in BRCA1 or BRCA2.
 
Should I get the BRCA test?
If this test was cheap or free, many women would likely elect to get the test done.  Unfortunately, this test is not inexpensive often costing in the thousands of dollars and may or may not be covered by insurance.  Given that most women who will develop breast cancer are not going to have BRCA harmful variants, who are the women most likely to benefit from this test?  Studies show that BRCA harmful variants often run in families and therefore mutations in these genes are said to cause a hereditary breast-ovarian cancer syndrome.  Because of this, the BRCA test may be most relevant to women with a strong family history of breast and/or ovarian cancer.  And even then it may be better to first test a family member who has breast or ovarian cancer to see if that person has a harmful BRCA1 or BRCA2 variant, then other family members can be tested.  For the general population, there are other tests that may be better (and cheaper) options for predicting your overall risk of developing breast cancer.


What should I do if I have a BRCA mutation?
If you are found to have a harmful variant in one of the BRCA genes, you should talk to your doctor about your options as there are things you can do to lower your risk of developing cancer.  One such option is preventative mastectomy which is the route Angelina Jolie decided to take.

To learn more visit: http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA

Be Aware of Genetic Testing Rather Than Beware of Genetic Testing

Many people have questions about how their genetic information can be potentially abused:

What happens if my genetic information is revealed to my health insurance company?

Can my employer force me to take genetic tests before giving me a job or deny me a job based on the results of a genetic test?

The short answer is that you are protected by the Genetic Information Nondiscrimination Act of 2008 (GINA), also known as Public Law 110-233 (read more about it here).  The law is not perfect, but it does provide a law on the federal level, rather than relying on each state.  It is important to note that a state may have MORE strict laws relating to genetic nondiscrimination, but it cannot have LESS strict laws or conflict with the federal law.  That’s the beauty of federal preemption of state laws on the same subject matter.

So let’s look at the questions above in more detail:

1.       What happens if my genetic information is revealed to my health insurance company? 

So Cigna (Aetna, BC/BS) requested information from your health care provider relating to your bad back to cover your treatments…. instead of sending in the back pain specific parts of your chart, your health care provider decided it was easier to just fax in the whole record to the insurance company.  Great.  You were recently tested for genetic variants that increase your risk of breast and ovarian cancer because your mom and grandmother both had breast cancer.  Now what? Do your premiums skyrocket because of your increased risk? 

No.

Under GINA, an individual’s genetic information cannot be used to deny you coverage or determine how much it costs.  However, they can still deny insurance or raise your rates based on your current health status.  For example, if you already had breast cancer. What if you had breast cancer?  Can the insurance company make your daughter take a genetic test to expose her risk of developing breast cancer?

No.

Under GINA, health insurers cannot request you to take a genetic test.  However, your healthcare provider can absolutely request that you take a test (we want this!)  The results do not affect your eligibility or premiums!

2.       Can my employer force me to take genetic tests before giving me a job or deny me a job based on the results of a genetic test or information?

Wow! You just got the job offer of your dreams and now you must take a drug test and a physical.  Seems reasonable, except they give you a questionnaire and ask you to tell about your family medical history:  “Does anyone in your family have heart disease, hypertension, cancer, diabetes, arthritis, or mental disorders?”  Some or all of these conditions are known to have a genetic component.   Can they ask you for this information? Can the employer now rescind your job offer if they think you have a genetic predisposition to developing a mental disorder?

No and No. 

Under GINA, employers cannot use genetic information for hiring, firing, job assignments and promotions.  However, the company doctor can certainly provide information about a genetic test as part of a general wellness program.  Under GINA, employers are not allowed to request, require or purchase genetic information about you or your family. 

Earlier this week I received an alert from Google regarding a new article about GINA.  It turns out the Equal Employment Opportunity Commission (EEOC) just settled its first GINA lawsuit.  The company required an employee to fill out a health questionnaire and a physical examination.  After finding the employee had carpel tunnel syndrome, they took back the job offer (it was for a distributor of decorative fabrics).  The company violated GINA when they asked her to disclose medical history and violated the Americans with Disabilities Act when they discriminated on the basis of her “perceived disability” with the carpel tunnel syndrome.

I hope this gives you some comfort when considering genetic testing.  You should not be afraid that your test will give insurance companies and employers ammo they want to deny you insurance or a job!