How Do You Know What You Don't Know When You're Not Informed of What There is to Know?

We hear the story only too often- a patient gets results from genetic testing or screening, is given some basic information, or perhaps even misinformation and finally makes their way to a genetics professional only to realize that they misunderstood their risk, or what the test actually looked for.

This led me to wonder about women's experiences with genetic testing in the perinatal/prenatal period. I wanted to try and figure out what it is that patients actually want and need. For any of you that have ever worked with me- you know my love for getting data! So off I went on my quest and began polling friends and friends of friends with questions to gauge their experience with genetic testing and genetic counseling. As genetic counselors, we are trained to empower patients to make their own decisions by giving them the tools and information to do so. But what if people don't even know that we exist to give them that information?

Preliminary findings from my (very informal) survey indicated that a striking 53% of people wish they had a more detailed discussion to understand test options, what the tests look for and further guidance surrounding testing and potential results. About half of the women responded that while they had a general sense of what the tests offered looked for they ultimately did the test that their doctor recommended. This indicates to me that in general, even when people have a decent sense of what is being offered, there is less than a full understanding surrounding what the test looks for or what potential results may be. What I would further like to explore is how this compares to perhaps a cohort of women who received "abnormal" or high risk results. Would these women in retrospect wish their pretest education were different?

80% of respondents indicated that they would have found it helpful to have access to a genetics professional via phone or email to chat about testing options, results, or concerns.

The reality is that majority of people, whether in pregnancy or not, tend to have additional questions even after they visit a doctor or genetic counselor. Yet, there's very little out there in regards to resources that give people the professional guidance. We live in an age where google becomes our 2nd opinion doctor, and where we crave the opportunity to have a conversation with a professional in a comfortable, calm environment where we can better process information.

In an ideal world, everyone would have the opportunity to meet with a genetic counselor to review all the options- but we all know this is not scalable. There just aren't enough GCs to do this, and in 2018- we have many other means via technology to disseminate quality information. So much has changed in the past 10 yrs with testing options available to women in pregnancy, yet we haven't done much to change the way we operate clinically.

If we keep operating the way we always have - we'll keep getting the same outcomes of potential misinformed and anxious patients.

It's time for deeper evaluation, innovation, and operational change so that we continue to uphold the mission of genetic counseling.

It is an exciting time to be a genetic counselor where we can be part of this pivotal change in innovation with healthcare delivery models. There is no lack of patients who need our services and I applaud all the new companies that are working towards the mission of increasing access to genetic information. While the past 5 years has seen a rapid increase in access to genomic technology and testing, the next few years absolutely need our focus on innovating the way that we deliver clinical care.

How You Can Simply Personalize Your Health Care; Right Now

It's that time of year again- the air is crisp with a cool breeze and the leaves are starting to transform into brightly colored hues, reminding us that Thanksgiving and family reunions are around the corner (sorry I'm late on this Canadian readers- I know Thanksgiving has passed and likely so has fall for you too!). It is also the time of year where if you have a genetic counselor (GC) friend, you will likely be nudged about the importance of family health history. Us GCs have a hard time not sliding in the utility of family history at any opportunity we get.

So what's the hype about family history? Knowing info about your family history is like giving your doctor x-ray vision with google alerts into your health. Almost every doctor you go to will ask some basic q's about health conditions that could occur in your family so that they can keep a closer eye on things if you are at an increased risk. Does it mean that you are definitely going to get that the same condition or symptom that a family member has; not necessarily. But, it's one valuable piece of your healthcare puzzle that allows docs to better manage your care. I recently went to my eye doctor for a routine check up and walked away from that routine appointment with eye drops to prevent glaucoma despite having no outward symptoms. Knowing that I had a family history of glaucoma and the current clinical presentation of my eyes made my doctor more likely to start me on treatment than if I didn't have a family history. Without information about my family history, she likely would have delayed starting treatment until a subsequent visit. The combination of family history information and current clinical presentation can be very informative in accurately diagnosing and treating people in a more personalized way.

At my last place of work, we were curious about how often information gathered from family history results in something significant (Thank you Sarah Lawrence College GC interns for gathering the data!). We discovered that about 30% of the time there was something that came up in the family history assessment that led to a referral to another provider or additional screening recommendations. Folks, that is about 1 out of 3 people who were able to take positive action to improve their health as a result of being asked their family history. That is not an insignificant number. Keep in mind that these are people that otherwise had no real indication for having a family history taken other than being asked if they would like to have it reviewed.

The reality is, that many of us, myself included get a bit apathetic when asked these questions at doctors visits. They take us off guard, it's usually not the reason you're seeing the doctor in the first place and we casually circle the "yes" and "no" on the forms. So what can you do to streamline this process? Take the time to gather basic family health history info when you can, and then keep this info with you either in a written format or saved in the notes section of your phone. This way when you're repeatedly asked for it, you have a single point of reference.

Ok, so you're thinking, "great, you've convinced me of the importance of gathering family health history... but I have no idea how to broach the topic." When we pause to think about it, there is a huge cultural shift in the past 2 decades where we as a society are more apt to share personal information than we ever were. I recently read a meme that said, "When we were kids we used to get upset if someone read our thoughts in our journal, now we get mad when someone doesn't read our thoughts and comment on them". In healthcare we see this trend as well, where typically older generations are less likely to be open about family health history compared to their younger cohorts. In clinical practice, I often heard patients mention that it's challenging to bring up topic of family health history. One way that a few people found success in introducing the topic was to say something casual along the lines of, "Hey, all my doctors lately are asking about family health history. Is there anything significant in our family history that I should know? Was there anyone that passed away young or anyone that needed ongoing treatment or surgery for anything?" Another tool that worked well for some patients was printing out or emailing a family history questionnaire to their family members.

We likely spend more time planning our Thanksgiving dinner and reunions than we do thinking about our family health history. This Thanksgiving let's start the conversation to take control of your health by understanding a bit more about your family health history. To support you in this process, one of my next posts will feature the top questions that leaders in their specialty (cancer, neurology, cardiac etc) wish you had the answers to. Until then, happy Thanksgiving planning and family history collecting.

What You Need to Know Before Your Cyber Monday Deal on Genetic Testing Arrives!

With Thanksgiving behind us and the holidays ahead of us, family is certainly on the mind. For many of us, reunions with family make us reflect on where we came from (our ancestry) as well as the traits and health conditions that we may have inherited. Genetic testing companies are also aware of this and have gone full force in marketing their services and promoting post-Thanksgiving deals. As a genetic counselor, I am super excited that access to testing and getting information about genetic health has increased. However, us genetic counselors all over the world reallllly want you to be informed before sending your DNA in!

If you've purchased or are thinking of purchasing a DNA test either for yourself or for a family member, here are a few things to keep in mind:

Family History

  • If you know of a family member who has a genetic condition and/or has had a variant found by genetic testing, stop right now and refrain from clicking the "add to cart" button. Super important to know more details about the individual that has the condition to ensure that you are selecting the right genetic test.


Ancestry Testing

  • If you are interested in taking one of these tests to learn more about your ancestors and where your family came from , it's important to select a test that has a large database of ethnic backgrounds.

  • This is especially important if you are non-Caucasian. The reality is folks, that most genetic testing and research has been done on the Caucasian population, so we know a little less about the genetics of other ethnicities.

  • Most of the companies offering these tests, should have information on their websites about which ethnic groups they cover. If ancestry testing is your primary purpose for doing testing, choose one that covers the greatest number of ethnic regions.

Some of the companies offering ancestry testing also offer a service where they try to match relatives based on DNA from others who have submitted samples to the same company. This has been super helpful for people who are seeking out relatives, or for those individuals that are adopted and want to learn more about their biological relatives. Some things to consider about this:

  • Some individuals have received unexpected information as a result of this matching service. For example, you may receive information that tells you that you are related to people you did not know. There are cases of people finding out that they are adopted, or were conceived via a donor. Most of the time, this doesn't happen, but it can, so just be aware!

  • You can choose to opt out of this "matching" service if you like.

Genetic Health Information

Some of these tests look for ancestry + genetic health information. It's important to understand the difference between screening tests and diagnostic tests. As well as susceptibility genes or markers vs. genetic mutations/variants. What does all this jargon mean in real people talk?! Here's the breakdown.

  • Susceptibility markers may increase your chance of getting a genetic condition- but it doesn't mean you will definitely get it. In fact, there may even be people who are affected with the genetic condition but don't have that very same marker. I like using real examples to illustrate what I'm yapping about- so here's one that will highlight this concept. So let's take APOE4 testing (risk factor for late onset Alzheimer's disease) for example.  This variant testing doesn't tell us a "yes" or "no" answer about whether or not you may get Alzheimer's, but rather informs us if there is a greater likelihood of developing Alzheimer's. Having the APOE4 variant increases the risk for late onset Alzheimer's- but not always. Many people with APOE4 do not develop Alzheimer's disease. And, if we look at people that do have a diagnosis of late-onset Alzheimer's disease, 30-50% are negative for APOE4. 

Bottom line: susceptibility genes aren't the be all and end all; they can be useful in informing if you may have an increased risk for something, but important to realize that there are many other factors that play a part.

So then, what are genetic mutations/variants? These are actual changes in the genes that are known to cause disease. Some of these tests look for genetic traits to see if you are a carrier of a genetic condition such as cystic fibrosis or sickle cell anemia.

  • If you are a carrier of a genetic condition most often you do not exhibit any symptoms of the condition. Rather, this information helps you understand the risk for your offspring to have the condition.

  • For most of these conditions, if both you and your reproductive partner are carriers for the same condition, then there is a 25% chance for a child to be affected with the condition.

So we've reviewed that some of these tests look for carrier status which most often will not impact your personal health but will give you information regarding potential risk for offspring. But what about the tests that tell you about your own genetic risk for disease?Some of these tests will also look for changes in your genes that can lead to an increased risk for genetic conditions, such as breast cancer. Key things to remember here are:

  • Often, they aren't looking at ALL the genes responsible for the condition, just a subset. Also, keep in mind that sitting here in November 2018, we may not even know all the variants that cause some of these conditions.

  • If you have a family history of one of these conditions, like cancer, and screen negative on these tests (ie, are not found to have a mutation), then you're not really off the hook. What do I mean by this?! Well, until we know the specific genetic cause of what's causing the cancer/condition in your family we can't really tell you if the negative genetic test puts you at a decreased risk. If you are in this category- please seek consult from a genetic counselor who can guide you through the testing process.

  • If you don't have a family history of any of the tested conditions and are not found to have any mutations, then great; you're likely at a decreased risk - but remember, many of these tests are not looking at majority of the genes known to cause these conditions.

  • And what if the test comes back and says for example you do have a variant in one of the genes responsible for cancer? Well, it's most likely accurate and does mean that there is a significant increased risk of getting cancer. However, there are definite next steps that need to be taken such as consulting with your doctor.

Make sure you read the fine print. Many of these direct to consumer testing companies indicate that the information given is not intended to be used for health purposes. Why do they say this? Well, it because the testing and analysis process hasn't gone through the same safeguards as say a clinical testing lab needs to go through. So what happens if testing from one of the direct to consumer testing labs indicates that you have a genetic variant? You will likely need to have that test confirmed by a diagnostic test in clinical laboratory that has the safeguards.


Each lab will have different policies on how they safeguard your private genetic information and who they may or may not share your information with. Again, read the fine print so you are in the know.

Sometimes the labs may ask for your consent to use your genetic information for research. Again, this is something that they will directly ask your consent for, so you will likely know if this is the case.

Final Thoughts and Take Home Message!

Direct to consumer genetic testing is a great way to find out a little more information about your genetic background. It can give you some insight into your ancestry, inform you of some genetic traits and potential meaningful health conditions. However, it's important to understand the limitations and to know that it is just ONE piece of the puzzle. Similar to how you would go seek consultation from your doctor if you experienced a troubling symptom (vs. going straight to scheduling a surgery); results from genetic testing can prompt you to take further action to get more info.

So here are the questions that I want you to ask yourself before your DNA is analyzed!

  1. What is driving me to do genetic testing? What answers do I hope to gain?

  2. Am I selecting the right test based on the information that I want to gain?

  3. Do I want to know all this information? How will I handle information that may change the outlook of my future health? This is not an easy one to answer- and there is no right or wrong answer here, just understanding what's right for you. For some people, they want all the info they can get because they feel that having this information keeps them in control and they may alter their behavior, environment, or seek additional medical expertise. Others, feel that knowing this information will cause too much anxiety and prefer to deal with issues as they present.

If you are struggling to find answers to these questions, seek out help. There's a whole profession geared towards helping you parse out these very issues. (If you got this far in reading my post, you've probably already figured out that it's called genetic counseling!) We're like the guidance counselor in high school who puts all the pieces together to help you figure out college stuff- except with your DNA and family history.

By now, the turkey and apple pie leftovers are probably gone and your eyes are probably fatigued from seeking out post-Thanksgiving online deals (or reading this post). My parting words to you are to be informed and empowered to select the best test (if any) as you head into 2019. And, if you were kind enough to gift one of these tests to a friend or family member, do them a favor and pass along this post so that they too can be in the know!

Need more info or want to chat? Send me a message, or contact me via email: