Man Failed His Paternity Test Due To His Vanished Twin’s DNA
DNA researchers report a father failed a paternity test because the genes in his saliva differ from his sperm’s. One in eight people might possess such “chimeric” genes caused by a twin lost in the womb.
To read more about this story, click here:
To read more about human chimerism, when to suspect it, and what can be done about negative DNA paternity tests, click:
You may have seen a CSI drama where a man is exonerated from a crime he actually committed because he has two different genomes (sets of DNA). At the scene of the crime, he leaves traces of the alternate genome behind. The lab tests the alternate genome, which doesn’t match the DNA in his blood. He is erroneously declared innocent. This might sound like science fiction, but this genetic condition is real and it silently impacts the lives of everyday people.
What is chimerism?
The term chimera is derived from a Greek mythological creature that was composed of a goat, a lion, and a snake. Although this monster never existed beyond our collective imagination, the health condition is quite real. Chimerism is a condition whereby a person has not one but two complete genomes (sets of DNA) in their body. One genome is found in one region or organ(s), while the other genome can be predominant in other organs or tissues. So a DNA test result would be entirely different depending on where the sample was originally from (blood, saliva, fingernail clippings or hair, etc). As you can imagine, this condition can lead to confusing results when the person seeks medical care or relationship testing!
One young chimeric father I know reported being sent to a hospital after a car accident. When the hospital staff discovered he has two different, incompatible blood types flowing through his veins, they asked if he had received a bone marrow transplant. Hospitals are usually ill-equipped to identify and treat chimeric individuals.
One mother’s story
Perhaps the most famous example of a human chimera is Lydia Fairchild. Lydia applied for child support for her two children after separating from her husband in 2002. At the time, she was pregnant with their third child. She was required to prove a biological relationship to the kids, so she submitted DNA samples for routine DNA relationship testing. Her husband was confirmed as their biological father, but the test indicated she was not the mother.
How could this be possible? Lydia conceived both of her kids naturally, carried them to term, gave birth, and was being told she was not their mother. Without knowledge of her condition, Lydia was accused of fraud. She nearly lost her two children to child protective services.
Lydia was court ordered to have a witness present at the birth of her third child to take a DNA sample immediately following the birth. Again, the third child’s DNA test excluded her from being the mother. Thankfully, a geneticist thought to test her cervical cells’ DNA, and indeed that DNA matched her son’s genome. In essence, Lydia had delivered a child from her twin, thereby becoming both the child’s mother and biological aunt. Take a moment to let that sink in.
What causes chimerism?
There are many types of chimerism, and various root causes. For the type of chimerism mentioned in this blogpost (also known as ‘tetragametic’ chimerism), the most common cause is a twin pregnancy that naturally reduces to a single baby. This is referred to “vanishing twin syndrome” because one embryo doesn’t survive and the embryo’s cells are absorbed by its twin and the mother. The remaining embryo incorporates the disappearing (“ghost”) twin’s cells into various tissues and develops to a healthy baby.
Back to Lydia Fairchild, and her story. What most likely happened is Lydia absorbed cells from her fraternal (non-identical) twin while still in utero. Her twin did not survive to term and all that remained of the embryo were the cells that Lydia retained in her ovaries and other organs. Lydia’s blood had her dominant genome. So when social services took a blood sample for routine maternity DNA testing, it did not match her child’s genome.
Lydia unknowingly passed on her second genome to her baby. In doing so, Lydia became the child’s mother and simultaneously, the biological aunt.
An even more common form of chimerism is called microchimerism. Microchimerism is defined by a person harboring a small percentage of cells that originate from another individual. Frequently, this condition arises during pregnancy when a mother and the fetus exchange cells across the placenta. Microchimerism has been detected in women who have never had a full-term pregnancy, but may have been unknowingly pregnant and miscarried. A transient form of microchimerism can also occur after a blood transfusion or organ transplantation. The baby’s stem cells may be acting to help protect the mother from her own autoimmune condition. For reasons not fully understood, many mothers report relief from rheumatoid arthritis during pregnancy. There is reason to believe that microchimerism may be the underlying explanation.
How does a person learn that they have chimerism?
Most chimeras are believed to be asymptomatic and completely unaware of their condition. Medical literature has identified some common symptoms including having different colored eyes, patches of different skin tones, different colored sections of hair, and, sometimes, disorders of sexual differentiation (formerly called hermaphroditism). Some chimeras have autoimmune diseases because the body recognizes the twin’s genome as a foreign substance. This does not suggest that anyone who has different colored eyes or skin, or an autoimmune condition has chimerism.
How common is chimerism? The answer might surprise you…
To understand how frequent chimerism might be, we first need to understand some things about twin pregnancies. A surprising number of single babies were originally twin pregnancies, where the twin did not survive to term. An estimated one in eight (or 12%) babies born had a twin that disappeared, and left no evidence of their existence.
Unfortunately, we don’t have enough scientific evidence to make an accurate prediction for the rate of chimerism in humans. Currently, there is no public-wide screening program in the US, nor is there any real need for it since most chimeras are healthy folk. We do know that, through the popularity of assisted reproductive technologies (such as IVF), twinning is on the rise, and we can anticipate chimerism to become more common. Microchimerism is believed to be the most common form of chimerism, with an estimated 20-90% of women harboring cells from prior pregnancies. The rate of microchimerism in men is less well known but assumed to be the same as women.
What increases the likelihood of chimerism?
Anything that increases the likelihood of a twin pregnancy increases the chances of a person being an undiagnosed chimera. If your parents utilized assisted reproductive technologies, such as IVF or used fertility medications, your chances of having been a twin pregnancy are more likely. Left-handedness has been observed more frequently in twins, leading some experts to believe that a left-handed individual may be more likely to have had a twin in utero.
What can I do if I suspect I have chimerism?
Chimeric individuals usually live healthy, normal lives–until something goes wrong involving DNA testing. If you have had a parental DNA test performed, and the result was (falsely) negative, chimerism may be an explanation.
Contact us at www.vibrantgene.com for additional information. We have a proven track record for successfully identifying chimeric individuals through cutting-edged DNA testing, and advocating for parental rights.
More and more genetic tests are available that claim to educate you about important lifestyle choices. But can a genetic test really tell you how to exercise? Optimize your diet? Uncover vitamin deficiencies? We put the Pathway Genomics Fit Test under the microscope by trying it out ourselves.
Pathway Genomics (PG) is one of several DNA testing labs that provides relevant tools for the health-conscious client. The Fit Test, which recently became available via a smartphone app, involves querying your genome for 75 markers (points of interest). At your request, the lab mails a saliva collection kit to your home with a return envelope included.
I tested it (no pun intended) to determine if it would be useful and reliable for my private clients. My colleagues also tried it out. Dr. Barry Starr, PhD, is a geneticist and research collaborator who also directs Stanford’s at the Tech genetics outreach program. Dr. Richard Donahue, MD, MPH, is the founder of Personal Health MD and a clinical collaborator.
Dr. Donahue and I tried out the original test which is more expensive but contained additional information about the variants including a quality score. Dr. Starr ordered the test via PG’s new app, which is cheaper but has an abbreviated report. For more details on Dr. Starr’s experience visit: A Geneticist’s Take on The New Pathway Fit Genetic Test
So is the Fit Test worth the $299-$599 out-of-pocket expense? Let’s find out.
What Do We Know About PG’s Tests?
PG performs their testing in a CLIA-approved laboratory, demonstrating the tests are of clinical quality (i.e. they have higher standards than a research lab). The tests were developed internally and, as such, are not subject to FDA approval. (When I am asked to select a laboratory for my clients, I carefully evaluate the laboratory and tests on the basis of quality, transparency and reputation.)
The Fit Test purports to help people gain personalized genetic information to help optimize their health by making educated lifestyle changes. The test queries your genome for 75 different markers (regions of interest in your DNA) that are associated with metabolism, eating behaviors and energy consumption. The lab then compiles your results into a report that outlines the various lifestyle changes that they recommend based on your profile.
The report itself is well-written. The lab is very transparent about the literature backing any given variant your test turns up. Each variant is given a score of one to four stars, indicating the size of the study and whether the finding was reproducible. Links to the original paper are also provided, which I found to be very convenient.
Speaking from Personal Experience
My report was nicely broken down into these sub-categories:
Some of the results were surprising and/or quite illuminating. Others were less informative, with less data supporting the association. Given how much information is provided, I will focus on the variants that had the strongest evidence backing their purported associations.
I was recommended to eat a diet low in fat. This was intriguing because Dr. Donahue’s report suggested he subscribe to the Mediterranean diet (which is presumably lower in carbs).
However, I remain a bit skeptical about this result. Only one of my seven markers evaluated received a four-star rating, indicating that most of the research compiled to design my diet plan involved smaller studies (n<200) with unreplicated data.
Further investigation of the marker with the strongest evidence left me even more skeptical. The claimed association of obesity to a diet high in saturated fat only pertained to folks with two copies of the variant (homozygous), while I only have one copy of the variant (heterozygous). As such, I believe this assertion is not true for me.
The Fit Test predicted I would have typical snacking behaviors, but have difficulty feeling satiated and display eating disinhibition (having a tendency to eat more than normal in response to a stimulus, such as tasty foods or experiencing stress).
I was also predicted to not have a sweet tooth, which is clearly not the case. None of the markers had overwhelmingly strong evidence backing them, so I won’t belabor this point.
I was predicted to be a rapid metabolizer of caffeine. Interestingly enough, further research of my variant (homozygous for CYP1A2*1F) I found that the gene encodes a family of proteins that are utilized by the liver to break down nutrients and drugs. Caffeine happens to be one such drug.
If I had a different variant, the test may have warned me of the risk of heart attack if I drank too much caffeine. Or, if I had a variant in the BRCA1 gene (associated with breast cancer), the test may have shown that caffeine could help me prevent breast cancer. So although PG classified this variant as having relatively little evidence backing the associations, I disagree. I believe the evidence is sufficient to give credence to this section of the test. This particular information has the potential to save lives.
The test also predicted I would not have lactose intolerance (which is true) and not experience alcohol flush (also true). Both variants had four-star data ratings.
This section assessed my genetic predisposition for vitamin deficiencies. I was predicted to have:
Deficiencies in vitamins B6, B12, D and folate (folic acid)
Normal blood levels of vitamins B2, C and E
My profile was inconclusive for vitamin A. In this section, the data was strongest backing up vitamin deficiencies in B6, B12 and D.
I have been screened for serum levels for these vitamins and followed up with micronutrient testing of T-lymphocytes tested at SpectraCell Laboratories. Neither screen suggested I am currently deficient in any of the above vitamins. However, this may be due to the supplement and diet regimen that I have followed for years.
Would I be deficient due to these variants if I weren’t cautious? I really cannot say. I can say that PG’s suggestion to “drink low-fat vitamin D milk” is surprising, since this vitamin is fat-soluble and requires ingesting fat to help in delivery. Oh well, the other nutritional suggestions seemed reasonable, but I’d run them past a registered dietician before making any changes.
The nutrition section also included a general chart of foods that are associated with weight loss and overall health. This table isn’t customized to my genetic profile, and there are no citations associated with any of the suggestions, so I moved past it quickly.
My genomic profile predicted I would experience enhanced benefits from endurance training and strength training, and that I would lose weight in response to exercising. I was predicted to have a normal response of HDL (good) cholesterol and a loss of body fat in response to exercise. Again, none of these associations had strong evidence backing them.
I was predicted to have an above-average risk of obesity, and risk regaining weight after dieting. The test predicted I would have a normal metabolic rate and typical adiponectin (a hormone produced by fat cells to trigger the liver and muscles to burn fat for energy) levels. The two claims with strongest evidence backing them were the association with obesity and adiponectin levels.
My risk for obesity was measured by considering two different markers: genes abbreviated as FTO and MC4R. According to PG, the first gene is believed to be important in controlling feeding behaviors and energy balance, while the second is expressed in the brain’s hunger center and involved in regulating energy balance.
The data supporting the association between my variant in MC4R is impressive, and a little frightening. Thankfully, PG suggests I can mitigate my risks by eating a proper diet and exercising regularly. Perhaps this was the impetus I’ve needed to make it to the gym more regularly!
The lab predicted a number of things that I have found not to be true: high LDL, low HDL, elevated triglycerides and elevated blood sugar. This was a bit surprising (albeit a relief for me) because this was the section of the test with by far the greatest number of associated variants with four-star data ratings.
Suffice to say that these predictions will encourage me to continue with my current diet plan, which seems to be working well, and to exercise more frequently.
The Fit Test can motivate clients to make necessary lifestyle changes. Sometimes we couch potatoes need a nudge to get moving and eat more consciously. I can attest to feeling more motivated to hit the gym more regularly.
The Fit Test also encouraged me to verify that the vitamins for which I was at risk of having a deficiency were included in my daily multivitamin. I don’t believe I would have had blood screenings done, either, had I not pursued the Fit Test.
Others have reported surprising responses to the test. My collaborator, Dr. Donahue, found his report to be quite accurate: “Uncanny as it helped explain who I am.”
We also have some data that speaks to the value of these tests. PG testing has become quite popular with MedCan, a private clinic in Canada. MedCan reports that 93% of their executive health patients surveyed found value in their test results.
PG’s tests are based on GWAS (genome-wide association studies), which describe associations between markers and complex conditions or traits. That is, the variants are not to be regarded as causative. Some of the markers in the Fit Test have weaker associations than other markers. PG indicates the level of confidence in their data to make it easier to judge validity.
In my practice, I tend to pick out the strongest findings in a given report and spend the most time researching and later discussing important findings with my clients. Also, these tests are usually not covered by insurance, and out-of-pocket costs are generally $299-$599 each. Do check the PG website, as the price fluctuates and you might get lucky with a promotion.
In the case of single-gene disorders like cystic fibrosis, misinformation can cost people’s lives. These lifestyle tests shouldn’t pose the same risks. PG’s recommendations are generally conservative, suggesting the risks to ordering these tests without a provider’s support may be lower. The risk of genetic discrimination is also perceived to be relatively low.
However, I would NOT recommend making major changes in supplementation or diet without consulting your PCP. It’s easy to test your blood levels and get a baseline assessment for each of these vitamins. This is necessary because some are fat-soluble, and you can theoretically overdose.
Final Conclusion About Pathway Genetics’ Fit Test
This test is not appropriate for everyone at just any time. However, if you have evaluated your family history with a qualified healthcare provider and results do not require urgent action, then such tests can be a useful tool for making lifestyle changes.
Again, be mindful of lifestyle changes! Consult with a qualified health professional prior to taking new supplements, changing your diet dramatically or starting a new exercise program.
In good health,
Licensed and Board-Certified Genetic Counselor
Founder of Vibrant Gene Consulting
For additional information, contact a genetic counselor at 617-433-7874 or firstname.lastname@example.org You can also visit www.nsgc.org to locate one in your area.
Thanks to new technology, access to genetic testing for heritable cancers is no longer elusive.
Until recently, hereditary cancer genetic testing was limited to patients who sought care in high risk cancer clinics. Testing was expensive and reserved for people already diagnosed with cancer or folks who had an extensive family history. Many individuals sought testing but didn’t fit the standard criteria, their insurance denied coverage and as a result they were unable to gain access to the testing they needed. To this day, many insurance companies continue to deny coverage, and patients often are left to deliberate about whether they can afford the expense on their own.
But the entire system may be changing dramatically with the development of new technologies that drive the cost down. A single test that can screen for two genes would cost $4000 at Myriad Genetics a few years back. That cost dropped dramatically to $1500 for multiple genes screened at Invitae and other labs. And today that price has dropped to a mere $249 for Color Genomics’ testing 19 genes associated with breast and ovarian cancers. With Color Genomics‘ new cancer panel, even if insurance denies coverage, most people are still able to afford testing.
The CEO of Color, Dr. Elad Gil, touts this as an effort to, “democratize access to genetic testing.” Color Genomics requires you to obtain a prescription from your healthcare provider prior to being tested, but the testing is then in your hands. The company can send you a saliva collection kit to your home. Color will then purify DNA from your saliva sample, and subsequently test the sample for variants in 19 genes associated with breast and ovarian cancer.
At Vibrant Gene, we believe that it is your right to know your personal genetic information. We laud the efforts of companies such as GeneDx, Ambry, Invitae and Color Genomics for making these tests more affordable to all-comers. After all, this information has the power to save lives through careful screenings and appropriate preventative care.
But thinking beyond simply the price tag, we are also very cognizant that this testing is not for exactly right for everyone. Nor is this testing fool-proof. Here are some questions you might want to approach your healthcare professional with, prior to pursuing cancer screening:
1. What are the chances of receiving an uninterpretable result?
Every genetic testing company encounters variants that have not been revealed before; as a result the laboratory cannot determine if these results are significant to your health or not. This leaves individuals and family members in turmoil! Myriad Genetics currently leads the pack in terms of having the lowest rate of uninterpretable results (estimated at around 2%). Inquire about the rate of, “variants of uncertain significance.”
2. What is risk of actually getting cancer, and what can be done to prevent it?
Even if you have a variant in a heritable cancer gene, that does not guarantee you will get cancer. No single heritable cancer gene has been found to have a 100% risk of your getting that particular cancer. If the risk is low, is that information still of value to you? Are there guidelines that inform your doctor how s/he should treat patients with this variant? Would you have different screenings each year to detect early cancers? Are there treatments specially designed for variant carriers? If the answer is “no” then you might wonder why bother to check that particular gene at all.
3. Is there any risk of genetic discrimination?
The Genetic Information Non-discrimination Act (GINA) was passed by congress in 2008. Currently, GINA affords protections for most people who carry private insurance, so that your insurance company cannot use genetic information to make decisions about your coverage, or your rates. It also prohibits your employer from hiring, firing, or promoting someone based on their genetic health information. Note that smaller plans and military insurance plans are excluded from GINA and that life insurance and long-term care insurance policies are exempt. You may want to discuss your needs further with your healthcare provider, prior to seeking testing.
4. Are you a believer that “less is more”?
Some of our clients prefer to only screen for a few gene variants at a time. There’s no reason why you have to screen for 19 genes associated with breast cancer, when you want to test in a step-wise fashion. This is truly a matter of personal choice, and you simply need to inform your genetic counselor of your preference.
If your healthcare provider is able to address your concerns about genetic testing for heritable cancer genes, we congratulate you for your efforts! We remain firm that knowledge is power, and this information can save lives.
For other considerations, we recommend you visit our website and previous blogposts on genetic testing direct to consumers. As always, feel free to contact us to address any concerns you may have remaining.
There are many things to consider when deciding whether or not to proceed with online genetic testing or not. Unlike other health screens such as checking your blood pressure, or bone density, knowing your genetic carrier status can alter your own self-perception. There are many considerations that should go into carefully deciding whether genetic testing is right for you, and whether now is a good time to pursue testing. This post aims to provide you with some guidelines, but it cannot possibly replace care from a trained genetics professional.
1. Is this the right time in your life?
We do not recommend having genetic testing performed during times of unusual stress or duress. For example, getting screened while preparing for a wedding, or while facing a layoff from work are NOT ideal times to pursue genetic testing. Ideally, you should feel like you are in a good place in life, and have plenty of social support.
2. How is this genetic test significant and important to your health?
Some DNA tests have a greater impact on your health management than others. How important is this test to your health? For example, finding out you have inherited a variant in the BRCA1 gene changes your medical care dramatically. Thankfully there are many courses of action we can take to prevent breast and ovarian cancers for those who carry these variants. Meanwhile, finding out you have a variant in an APOE gene that is associated with Alzheimer’s disease does not change your course in treatment–with the exception being that you can make important lifestyle changes. Are you at high risk due to a family history, or maybe because of your ethnicity? Are there treatments available to people who have the condition? How do you feel about having this disease or having a child with this disease? By answering these questions for yourself, you can start to weigh the benefits of the test to the risks (#4, below).
3. How can you determine the quality of the test that’s offered?
No two genetic tests are created equal. Assessing the quality of a test is something that genetic counselors are most proficient at, but here are some basic tips:
Inquire with the testing company about the “detection rate” for your particular ethnicity. No single genetic test is able to pick up 100% of the variants, mutations, rearrangements that can be found. It is important to know what are the chances that this test may miss something, giving you a false sense of security.
On the flip side, if the lab detects a variant in you, then what is the likelihood that it may cause the disease it is associate with? In technical terms, we call this the positive predictive value. Simply having a variant in a particular gene does NOT guarantee that you will be facing that disease during your lifetime. It is crucial that you find out what having a variant implies to your health and wellness.
Lastly, what is the chance of getting a “VUS” or a variant of uncertain significance. The lab should be able to inform you how frequently this happens. (See #5 below for more details).
4. What risks might you be facing by pursuing this test?
There are many risks to consider prior to proceeding with a genetic test, as such this list cannot be exhaustive. Genetic discrimination is rare, but a real risk. If the genetic test is predictive in nature, and can inform you the chances of your getting a disease (Huntington’s disease, or breast cancer are examples) then it is highly recommended that you consider long term care insurance and life insurance policies prior to testing.
One of the biggest concerns healthcare providers have for DTC genetic testing is that the interpretation is left up to you. If you are not provided with important information involving your medical management, key life-saving screenings can go missing.
Another concern is that you may be surprised by ancillary findings. So, for example you might have ordered a test simply to learn about pharmacogenetics that will help you to predict your ability to metabolize medications. But in addition to learning about your pharmacogenetic profile, you also are surprised to learn that you have a mutation in a completely unrelated gene, predisposing you to a different genetic condition. The chance of uncovering ancillary findings varies from test to test, lab to lab, so it is worth inquiring about. The Whitehouse assembled a taskforce to discuss the issue, you can read about their conclusions at greater detail here: Ethical Management of Incidental and Secondary Findings in the Clinical, Research, and Direct-to-Consumer Contexts (Dec 2013).
5. What will you do with the results?
If the results are positive (they find a variant in a disease gene), you may consider:
Getting healthcare providers involved. What can your genetic counselor or physician inform you?
Informing family members–anyone who might also benefit from getting the test performed.
Paying close attention to changes in your health recommendations, based on the results. Changes to your diet, incorporating additional screenings, or prophylactic treatments might initially sound overwhelming but they can be important considerations and may save your life.
Investigating if there are prenatal tests so you can avoid passing disease on to your children. If so, will your partner (or donor) also need to be screened?
If the results are negative (no variant is detected in the disease gene):
Ask how confident the lab is in this result. Again, no test is 100% accurate, so what is the ‘residual risk’ that you are still a carrier? This risk is typically related to your ethnicity.
You can feel somewhat confident that you are not a carrier, if the testing is done correctly.
If the results are inconclusive (a variant was detected, but the lab was unable to interpret its meaning):
This may or may not apply to the type of testing you are pursuing. A trained genetics professional can help you better understand the significance of your result.
Will the lab inform you of these results? Note that not all labs report inconclusive variants.
Interpretations of variants can change as time goes on, and we have more data available. How often can you find out if a variant has been reclassified? Will you need to contact the lab, or will they reach out to you?
How can I make a decision about DTC genetic testing?
We realize deciding about online genetic testing can be a bit overwhelming. We also acknowledge that genetic testing is not for everyone. For some people, the answer is clear, and they can proceed with our without testing. If things remain unclear, try listing the pros against the cons. Which list is longer? However if questions persist we recommend you speak with your clinical genetic counselor or other genetic health provider. If you don’t have access to a clincal genetic counselor, you can contact Vibrant Gene, or visit nsgc.org to locate one.
How did Angelina Jolie Make Her Recent Health Decisions?
This week Angelina Jolie bravely discussed the elective surgeries she pursued to ensure she will not get ovarian cancer. By her taking proactive measures, she can now reassure her children that she can be present for their weddings. But she did not make theses life-changing decisions on her own. Ms. Jolie had genetic counseling to help her make informed choices.
With so much discussion about cancer, you may be left with many questions. You might have concerns about genetic conditions in your family; what about the cancer your aunt had, or your grandfather’s Alzheimer’s disease? You may also be curious about genetic testing, and what it could offer you. Many people have concerns about their genetic health, but rarely have the opportunity to ask questions about them.
If you have concerns, there is no reason to feel alarmed. Learning about your genetic health can be an empowering experience. After all, knowledge is power. This post is designed to help you decide if you can benefit from genetic counseling.
What is a genetic counselor?
Genetic counselors are health care providers specialized in delivering genetic care to individuals and families. They can help you understand risks, and gain personalized information and support. They also interpret genetic test results, provide supportive counseling, and advocate for your needs.
Ms Jolie learned key information she needed to make informed health choices through genetic counseling. This involved sharing her personal and family health history regarding cancer and other genetic conditions. Her provider could then assess the risk that this history could have an underlying hereditary cancer syndrome. Her chances were indeed quite high, so she was then offered genetic testing for genes implicated with breast and ovarian cancers. Her health provider walked her through this process, helping her understand what choices presented themselves at each fork in the road. Angelina successfully chose what was right for her, and her family. Not everyone chooses the same course of action, and alternatives to prophylactic surgeries are expected as we see more breakthroughs in precision medicine. Genetic counseling can help you with cutting-edged information, allowing you to make informed choices, deciding on the path that is right for you.
Fortunately, these services are available to you too
Vibrant Gene is an affordable private genetics consulting service that is available to all comers.
Your Vibrant Gene consultation may include:
Creating a detailed medical and family history
Gaining essential information about genetic conditions for you and your family
Understanding the benefits and limitations of genetic testing
Coordinating genetic testing for you (if desired)
Interpreting genetic testing results for you
Summarizing risk-reducing and health promoting recommendations for you
Vibrant Gene will help provide key genetic health information that you can share with your other health providers.
Take Our 1-Minute Genetic Health Quiz…
Are you concerned about your genetic risk of conditions like diabetes, cancers, heart disease/heart attacks/strokes? Are you interested in a comprehensive approach to prevention?
Have you ever had a clinical genetic test done at home through a company like 23AndMe? Do you need some guidance understanding the significance of the result? Are you considering pursuing DNA testing online?
Are you (or your partner) pregnant or planning to expand your family? Do you need advice about having a healthy pregnancy? Are you concerned about your age-related risks to pregnancy? Have you had three or more miscarriages or experienced infertility?
Are you concerned about a family member’s health condition? Do you need to know if it is genetic, and if so, what does it mean to you and your family?
Are you taking (or considering) prescription medications for a mental health condition, for pain, or to treat a heart condition? Would you like to confirm the medication is compatible with your genetics, and will not cause adverse effects?
If you answered, “yes!” to any of these questions, you may benefit from a consultation with Vibrant Gene.
How can I find a genetic counselor?
You can find a genetic counselor by contacting Vibrant Gene for a complimentary 10 minute consultation. Alternatively, you may use the Find a Counselor tool on the NSGC website.
Directions:Preheat oven to 350 degrees. Lightly grease two 9″x 5″ loaf pans or one large cake mould.In a heavy stand mixer or with a whisk, beat eggs and sugar for 3-5 minutes.In a small bowl combine milk, oil, lemon juice, zest and extracts.
In another bowl whisk together GF flour and baking powder.
At low speed at dry and wet mixtures a little at a time just until combined. [It may be more soupy than other cake batters you are accustomed to. (It’ll be OK!)]
Bake 30-35 minutes or until cake center springs back to touch. Chef’s Notes:
This cake can be made ahead of time and frozen. Wrap first in foil and then a ziplock. To unthaw, simple place on counter and allow to unthaw naturally.
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.
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 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!
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)