Posted 4:13 pm by Kayla Sheets & filed under Direct-to-Consumer DNA Testing, Genetics as Preventative Care, Rare Disease, Vibrant Gene.

Part 1: What is DTC Genetic Testing?

February 26, 2015

Last week a company called 23andMe was awarded approval by the Food and Drug Administration to offer genetic testing to you at home. This is the first time the FDA permits a rare disease gene to be screened without a healthcare professional’s involvement. After reading this two-part blogpost, you will be better informed and able to decide if this type of genetic testing is right for you.

Is DTC genetic testing right for me?

Genetic testing isn’t for everyone! In this post, we will discuss some of the benefits and some of the downsides to genetic testing from home. At Vibrant Gene, we speak from both professional and personal experience. We guinea pigged ourselves with 23andMe (when comprehensive health risk data was available, before November of 2013) and learned some interesting, valuable information. This post is by no means comprehensive, but can serve as an introduction to the process. We hope you will be empowered to make informed decisions about direct to consumer (DTC) genetic testing for yourself and your family.

What are the top reasons to seek genetic testing at a clinic?

There are many reasons why people seek out genetic testing in clinics. Some people have a family history of a condition, and need to know what are their chances of acquiring the disease throughout their lifetime. For example, Angelina Jolie realized her mother’s ovarian cancer could be heritable. Through genetic testing she learned that she herself had a substantial risk of ovarian and breast cancers, and was able to make some potentially life-saving healthcare choices.

Many folks know that a family member has a variant in an important disease gene, and need assistance getting themselves screened for that particular gene. Angelina Jolie’s biological children may choose to be tested when they are adults. And, you can see how this information can be especially important to couples, as they make family planning decisions.

People in their childbearing years commonly seek genetic counseling to learn about risks to a pregnancy, and how to have a healthy baby. There are genetic tests for the parents-to-be as well as genetic tests available for the pregnancy.

A growing number of people are interested in improving their personal health through genetic testing. Pharmacogenetic tests are available to determine which prescription drug may be most effective with a person’s genetic profile. Others turn to nutrigenomic testing to understand how to optimize their diet to avoid common diseases and lower their risk of cancers.

DTC testing is currently far more limited than the testing that can be obtained from a healthcare provider in a clinic.

What genetic tests are currently available to me at home?

At the time of this posting, there is currently only one genetic test that is FDA approved and available direct to consumer. The company 23andMe can provide screening for a gene that causes Bloom syndrome. Adults who are of child rearing age, and interested in preventing this disease in their children are the best candidates for this test. More DTC genetic testing companies are expected to seek FDA approval in the near future.

How does DTC genetic testing work?

Pursuing DTC genetic testing can be as simple as ordering a kit from the company’s website, providing your credit card number, collecting a saliva sample, and returning the completed kit by mail. The results come available within a given time period, and can be accessed through the company’s web portal. Note that you decide who will or won’t be present while you receive the results, and the timing of when you decide to open them. The interpretation of what the results mean to you and to your family is left up to you.

How can I benefit from DTC genetic testing?

We believe it is your intrinsic right to know your genetic information. End of story. Genetic testing can save lives and prevent serious debilitating diseases in future generations. Genetic testing from your home can be convenient, saving you a trip to a clinic, and a copayment. Depending on the company, the test may be less expensive from home, especially if your insurance declines to cover it from a clinic. Having the testing done on your own can also be very private. And you can get a genetics specialist involved at anytime.

Are there any risks to pursuing DTC genetic testing?

There are some risks to consider before you order that DTC kit. One of the biggest downsides to having testing done at home is having a lack of support. Your healthcare provider ideally would help you to weigh the benefits to risks, know which genetic test is high quality and appropriate for you, help with the interpretation of the results and provide emotional support if/when there are surprises. There are some genetic testing companies that over-estimate and over sell the DNA test’s potential, as illustrated by a recent study at Dana-Farber.

Ordering a genetic test can be surprisingly complicated. Genetic testing is constantly changing, with new emerging technologies constantly popping up. As a result, the wrong test can be ordered inadvertently. One laboratory, ARUP in Salt Lake City, published a study indicating that these mistakes add up–$48,000 worth of incorrect genetic testing per month ($1.2 million total during the 21 month study)! In this case, however, you are the one who stands to lose money, instead of your insurance company.

The bottom line is If you have a family history of a genetic condition, you need to be 100% certain you are ordering the correct test.

If the incorrect test is ordered, you may be left with a false sense of security. That may sound minor, but the test is actually detrimental to your health. You would not know to seek potentially life-saving screenings or preventative measures. For example, folks with Lynch syndrome need colonoscopies much earlier than the general population. WIthout this knowledge, however, the standard colonoscopies may be too late.

When the results arrive, due to circumstance, you will be without a healthcare provider and their guidance. Sometimes the results are fairly straightforward, and the next steps in your care may be clear to you. But often genetic testing results are extremely complicated, and require a genetics provider to fully understand them. In part 2 of this post, we will describe what types of results you can expect to see.

Emotional support can be an important component of genetics care. People commonly report their genetic test results changed their self-perception. We encourage you to contact a genetic counselor for support, should you feel alone or upset by your results.

Genetics tests and screens can be extremely powerful. When done correctly, you can help your family to avoid serious disease in future generations, and sometimes learn life-saving information. However, these tests need to be done responsibly in order to minimize risks and to enjoy the benefits of your hard work.

How can I make a decision about DTC genetic testing?

Next week we will post information that may help you to make a final decision about DTC testing.

In the meantime, you might consider the following steps:

Do your own research, starting on the genetic testing company’s website. Does the company market other products such as supplements? What will they do with your health information?
Inquire with the testing company for more information. Ask to speak with a customer care representative, or with their genetic counselor, if available. This is a free service that most genetic testing companies offer.
Speak with your clinical genetic counselor, or other genetic health provider if questions persist before or after testing.
If you don’t have access to a clincal genetic counselor, you can contact Vibrant Gene, or visit nsgc.org to search for one.

Stay tuned for Part 2; we will ask five key questions to help you decide if DTC genetic testing is right for you.

Posted 2:27 pm by Kayla Sheets & filed under Alternative Food Recipes.

My dear friend Tracy is one of South Boston’s best kept secrets. She is without a doubt the best GF-baker I know, but whenever someone suggests she open a bakery, she shrugs, saying it’s just a hobby. So since her products aren’t available in Whole Foods near you, I’d like to share with you one of her amazingly simple, delicious, and dare I say healthy-ish recipes. You won’t believe how easy it is, nor how outrageous these cookies are!

1. Blend together:

1 cup peanut butter (crunchy or smooth)

1/2 cup sugar (or sugar substitute such as maple syrup, but not stevia–changes the consistency)

1 egg

1 teaspoon vanilla extract

2. Roll dough into 1 inch balls, place onto parchment paper lined cookie sheet.

3. Criss-cross each ball of dough with a fork.

4. Bake on the middle rack, 350 degrees (F) for 12 minutes.

5. Cool for another 10 minutes before eating/storing. If the PB you used does not have salt, I suggest sprinkling them with sea salt.

Makes about 1 dozen bite-sized delights. Enjoy when cooled!

Posted 2:23 pm by Kayla Sheets & filed under Genetic Counseling in Chile, Vibrant Gene.

February 17, 2015

Perspectives Magazine, Q1 2015

The founder of Vibrant Gene helped create the first non-English speaking clinical rotation training site for American genetic counselors. Read about challenges that pioneers in genetic counseling face in Chile.

Pictured (left to right): Sonia Margarit, CGC; Maria Luisa Guzman, RN; Kayla Sheets, LCGC; in Santiago, Chile. (Aug, 2008)

Posted 1:44 pm by Kayla Sheets & filed under Rare Disease, Vibrant Gene.

(Part 1)
February 12, 2015 (updated March 9, 2015)

Photo by Erin Lee

The UK is the first country in the world to legalize the use of 3-parent IVF techniques. The FDA is currently reviewing the technique for use in the US. How can three parents create one biological baby? Much of this post may sound stranger than fiction…

For Starters, What is IVF?

In its simplest terms, IVF (or in vitro fertilization) is the creation of human embryos in a lab, by mixing eggs and sperm. Embryos are then implanted into the mother-to-be’s womb. Until this point, IVF was limited to folks who experience fertility issues, or need to use donor egg or sperm as commonly seen in same-sex couples. But this week marked an epic breakthrough in IVF technology use.

Mitochondria: not your average organelle

Mitochondria are organelles (think ‘mini organs’) found inside each of the trillion cells in your body: blood cells, skin cells, heart cells etc. (Picture a chicken egg, the yolk is the nucleus and houses your DNA; the egg white is where all the organelles hang out.) Mitochondria act as powerhouses by taking in molecules and breaking them down to a usable source of energy for your cells. The body of a person with mitochondrial disease is starved for energy, especially their brain and heart because these organs require a large amount of energy to function.

I personally know folks with mitochondrial disease. Many have symptoms similar to chronic depression, or chronic fatigue, amongst a litany of other symptoms. Some face risks of kidney or heart failure during their lifetime. Striving to prevent possible mitochondrial disease in future generations is a worthwhile endeavor.

What Makes Mitochondria Amazing?

Mitochondria have their own genome. It is tiny, the genome only contributes 37 genes (compared to around 25,000 found in our nuclear genome). And the organization of these genes is very strange. They overlap with one another, and together form a large ring….much like bacterial genomes. There is no coincidence there. Mitochondria were once sovereign beings. Early in human history, our cells engulfed bacteria, having them play the role of power generators. The relationship was symbiotic-we gave them food, they gave us energy, and eventually the bacteria took up permanent residence. They retain genetic material, which we continue to use mostly for energy production.

How do you inherit mitochondrial genes?

Unlike our 25,000 genes found in our nuclear DNA (which we inherit half from mom, half from dad) 100.0% of mitochondria and their accompanying genes came from the mother. Her egg at the time of conception was saturated with mitochondria. Dad’s sperm swam by using a single mitochondria to power the tail (or flagellum), and proceeded to inject its nuclear DNA. The sperm’s single mitochondria was left outside the newly fertilized egg.

If a mother carries a mutation in one of her mitochondrial genes, every pregnancy carries a high risk of mitochondrial disease. The 3-parent IVF technology, now legal in the UK, is a game changer. It allows such families to have children free of such disease.

How does the IVF lab work its magic?

Here’s the brilliant work-around. The mother with the mitochondrial disease gene contributes her egg, the father provides his sperm, and a third woman donates a healthy egg. The lab carefully removes the nuclear DNA from the second egg, leaving the healthy mitochondria intact. The lab then injects the nuclear DNA from the mother. A single sperm is injected into the new, healthy egg, and the embryo is implanted into the mother’s womb. This kiddo then will have the nuclear DNA from one mother, nuclear DNA from the father, and mitochondrial DNA from a third parent.

From a scientific standpoint, this marks a historic breakthrough in reproductive technology. And for the thousands of families suffering with mitochondrial disorders, this is very exciting news. For the first time, mothers with mitochondrial diseases can have healthy biological children of their own.

But there are some social implications we might need to consider, and we will tackle these in part 2.

Posted 8:38 pm by Kayla Sheets & filed under Direct-to-Consumer DNA Testing, Vibrant Gene.

One Christmas, I thought it would be fun to try out at-home DNA testing for my then-fiance and for myself. I recall sitting side by side on our overstuffed couch, spitting into plastic test tubes and laughing at the slobbery mess we were making.

After about a month of waiting, the results were in. We again plopped ourselves down on the couch with our laptop and logged in to glimpse what was in our stars.

My fiance’s testing was rather uninteresting (not that we were complaining) but we learned that some of his Bulgarian ancestors were Italian.

When it came to be my turn, my heart started racing. I thought, “Wow, does this happen to all of my patients? Do they feel weak in the knees at this moment?” As my luck would have it, I had inherited one gene with one working copy and one non-working copy.

I’m a carrier of GJB2?! (Technically, I have a variant that renders one copy of this gene non-working).

I sat, stunned, staring at the screen.

I knew what the implications were. I knew that while I myself would never have deafness due to this mutation, my future kids could. If my fiance was also a carrier. According to his test result, he is not a carrier but this testing was from 23andMe, and the lab’s clinical reporting has since been shut down by the FDA for many issues. Can we trust he’s not a carrier? How accurate were these results? Who could I turn to for follow up testing?

I first contacted my PCP who was overly taxed with acute cases, and made it clear following up with genetic testing not a top priority. I wasn’t yet pregnant and anyway wasn’t genetics [my] specialty? My OB/Gyn was willing to meet with me, but he didn’t feel comfortable running the test himself. I kept shaking my head, thinking, “Why is access to basic genetics care so difficult?” Eventually I found an obstetrician that would run a multi-gene panel that included GJB2. My obstetrician was really lovely, but she felt uncomfortable interpreting the test result, and left me to figure out follow up care. Should we have my now-husband tested? What would we do with the results? Should we inform our family members, or keep it private? We sat down together and talked for a long while, having to make some big decisions on our own. It left me wondering what a patient without my professional training would have done.

The lesson I learned from being a genetics patient was that persistence pays. Genetics is a specialized field and there are few trained professionals available to help. Sometimes takes a little extra time and plenty of determination to find the right provider.

My aim is to have Vibrant Gene provide access to genetics care for all-comers. Without knowing my carrier status, I may have been facing a horror story of having children with debilitating conditions–diseases you wouldn’t wish on your worst enemy. It’s time folks are able to utilize the latest genetic technology to its fullest potential.

With a Vibrant Gene consultation, you will feel knowledgeable, empowered and able to make smart decisions about your genetic health.

We look forward to speaking with you!

Direct-to-Consumer Genetic Testing Pros and Cons