Do You Know All 6 Types of Genetic Tests that You May Get in Pregnancy?

Most people are aware of some, but often not all of the tests that are being offered or performed on them during pregnancy.  Understanding your options in advance will lead to more meaningful discussions with your doctor or health care team.  Genetic testing in pregnancy is optional, and learning about what information each of these tests gives you allows you the opportunity to vocalize what information you do or do not want to know.

Below is a brief breakdown of all the tests that are offered which give you information on the genetic health of your baby.

First Trimester Screen with NT Scan

This is a blood test done in conjunction with an ultrasound at around 12 wks gestation that measures the back of the baby's neck. Results from the blood test and the ultrasound measurement are put together to give you a risk estimate for some of the more common chromosome conditions.

Key Points:

  • Does not look at all chromosomes

  • Gives you a risk estimate, not a yes/no answer

  • Lower detection rate and higher false positive rate than NIPT (see below)

  • A higher than normal NT measurement can be indicative of heart defects or other genetic syndromes.

  • A positive (abnormal or increased risk) result does not mean your baby has the condition.  

Non Invasive Prenatal Screening

Also referred to as NIPS or NIPT. This is a blood test done after 9 wks gestation that can tell you with a higher detection rate that first trimester screening, the chance for baby to have some of the more common chromosome conditions.  

Key Points: 

  • Doesn't look at all chromosomes

  • Doesn't give you a yes/no answer about the chromosome conditions, but can tell you if you're low or high risk

  • Not invasive, ie no risk of complications from the test, but the risk is that you may miss something (when compared to diagnostic tests)

A positive (abnormal or increased risk) result does not mean your baby has the condition.  All results should be confirmed via a diagnostic test such as CVS or Amnio.

Carrier Screening

This is a blood test done usually first on mom that can tell you if you carry a change on a gene for certain genetic conditions.  For most of the conditions screened for, if both mom and dad have a change in the gene  for the same condition, then there is a 25% chance that baby could be affected with that condition (Autosomal recessive inheritance).  There are some conditions where if mom is a carrier, there is a 50% chance for a child to inherit the change (X-linked inheritance).  The severity of the condition may vary between males and females for X-linked inheritance conditions.

Key Points:

  • Often there are large panels with 200+ conditions screened for

  • Many of these conditions are super rare, but can have significant health implications.  Having knowledge of increased risk is helpful to know for potential early treatment and planning.

  • A negative (normal) result does not eliminate all risk, but significantly reduces the risk

2nd Trimester Screening, AFP Measurement

This is a blood test that is done typically around 16-18 wks gestation. The alpha-fetoprotein (AFP) is a protein made by the baby that crosses the placenta into mom's blood.  Elevated levels of AFP can indicate certain structural abnormalities in the baby, such as neural tube defects.  

Diagnostic Tests

These are tests referred to as chorionic villus sampling (CVS) or amniocentesis (amnio).  They will give you information about the number and structure of all the chromosomes.  You can also get super detailed information from additional testing referred to as microarray analysis where the chromosomes are analyzed for microdeletions and microduplications.  Both tests are invasive in that they are taking a sample of either the chorionic villi from the placenta (in CVS) or the amniotic fluid surrounding baby (in amnio).  While both are safe procedures, they do come with a risk of complications that could lead to miscarriage.

Key Points:

  • Gives you the highest detection rate compared to screening tests

  • Much more comprehensive than any of the screening tests

  • Has risk for complications that could lead to miscarriage

Level II Ultrasound

Detailed ultrasound performed around 18-20 wks gestation.  At this point, baby is large enough to take a detailed head to toe look at all the structures. Measurements are taken of all the bones, the fluid around baby is checked and the flow of blood through the heart is assessed. If any structural changes are noted, you may be referred to a genetics professional to further evaluate if the findings could be associated with a genetic syndrome or condition.

The above is just a quick breakdown of the 6 tests that are typically offered to pregnant woman beginning in early pregnancy.  There's no right or wrong way to approach testing; but it is important to figure out what options would be the best for the type of information that matters to you. For some people, they know exactly how they would want to proceed, but for most they're a bit ambivalent.  Chatting with a genetic counselor can be very informative in learning more about what test may be the optimal choice for you.  At our practice at FiND Genetics, we take the time to understand your questions, personalize information, and guide you so that you can get to answers that you feel confident about.

Can Your Genetic Testing Results Impact Your Ability to Get Insurance?

The popularity and ease of genetic testing has rapidly increased over the past few years. With the ability to take a genetic test from the comfort of your home, without a medical provider involved, more and more individuals are getting information about their genetic health.

While the ease of testing has certainly been a barrier to receiving genetic health information, what most people may not consider is the potential impact of insurance coverage down the road. At this time, the federal Genetic Information Non Discrimination Act (GINA) has protections in place that prevent health insurers from asking about or using your genetic information to determine coverage or cost for a health insurance policy.

Unfortunately, an insurance company can ask you about your personal and family health history, including genetic testing prior to determining whether to offer you a policy or in determining how much to charge you for a policy when it comes to life insurance, long-term-care or disability insurance.

Most people are accustomed to life insurance underwriters/companies requesting medical records from their doctors prior to issuing a policy. While at-home DNA tests, like 23andMe, give you the ability to order the tests from the privacy of your home and keep the results out of your doctor’s medical file; life insurance and long-term-care companies have the ability to also ask you for this information. However, if you take a genetic test after you have already received a policy, your results cannot affect your coverage.

Is That Gender Genetic Test Really 99% Accurate?

Your doctor or midwife may have talked to you about the non-invasive prenatal test or screen (NIPT/NIPS).  This is a test that looks at the risk for baby to have some of the more common chromosome changes that can impact baby’s health.  Because it can look at the X and Y chromosomes which make up the baby’s sex, the test is often referred to in many social circles as the “gender test”.  

NIPT has become increasingly popular over the past 5 yrs because it far out performs traditional blood screening tests in regards to detection rate.  It is also non-invasive, meaning there’s no risk to the baby since it’s just a blood test on mom. So what’s the down-side you ask!? The biggest negative about this test is the lack of understanding about how to interpret the results.

I’ll break down the top 3 myths that that every genetic counselor wishes you knew!

1. Everything is normal!

So, if you get a result that does not indicate any high risk- this is great news!  What’s key to remember is that this test isn’t looking for ALL chromosome problems that could occur, just the few that are most likely to occur. Also, this test doesn’t look for all possible genetic changes (really, there is no one test that does).  So bottom line, definitely good news that results came back within normal limits, but understand that it doesn’t look for all things that could cause issues.

2.  The test has a 99% detection rate, so a “high risk result” means there’s a  99% chance that baby has this condition.

It is very alarming to receive results that put you at a higher risk to have a baby with a chromosome condition. What’s super important to remember is that for us to confirm these results we absolutely need to do additional testing referred to as diagnostic testing.  This includes tests such as a chorionic villus sample (CVS) or amniocentesis (Amnio).  

Remember- while a test may have a 99% detection rate, it does not mean that it is 99% accurate.

The chance that your “high risk” or “abnormal” result is truly an abnormal result ranges anywhere from 30-90%. The range depends very heavily on your age.

3.  This blood test is safe and replaces the other tests that can cause miscarriage

True, this test is a safe test in that it is not invasive (just a blood test) and does not pose a risk to the baby.  However, it is inaccurate to think of it as a replacement test for a CVS or amniocentesis. There are a couple reasons for this.  First, these diagnostic tests (CVS and amnio) are going to give you a yes/no answer vs a risk estimation that the blood test does.  Second, diagnostic tests (CVS/Amnio) look at all the chromosomes and can even take a deeper look at the chromosomes to detect micro changes.  Studies have indicated that 2-3% of people will receive a diagnosis via CVS/Amnio that would have been missed on the blood test. This number jumps to 6-8% if there is a structural abnormality noted on ultrasound.  

So what about the risk of miscarriage from the CVS or Amnio tests?  Yes, these are invasive tests, so they do pose a risk for complications that could lead to miscarriage.  Most up to date data indicate that the risks for miscarriage are closer to 1/350-1/500, and some even quote closer to 1/1000. This is very different than the older numbers that quote a 1/200 risk of complications.  Every institution and provider quotes their own risks- so it’s important to understand the specific risks for the center that you are working with.

Some Final Thoughts

So bottom line, NIPT is a great test that can give you really useful information, but isn’t 100% accurate and cannot look at all genetic changes.  The most important question to ask yourself however is, “What information am I hoping to gain from this testing?” If you are looking for a test that can give you the most refined information on your risk for having a baby with a chromosome abnormality, then considering a diagnostic test may be a discussion that you need to have. If however, you understand that NIPT gives you info on some, but not all chromosomes and are at ease with this information, then by all means go ahead and get your blood drawn!

There’s really no right or wrong answer in how to best approach testing. I have talked to hundreds of women and families and I can tell you that everyone approaches decisions differently and in their own way.  If you find yourself struggling to decide what the best route is for you, don’t hesitate to chat with a genetic counselor. That’s exactly what we are here for- to help you make sense of all this testing and guide you to making the choices that best fit you and your family.

The Note on the Medical Chart Note

It’s mid January, and the holidays already seem like a distant past with visions of new goals and aspirations on the horizon. This past December I was sifting through my holiday decoration box and was taken back in time to photocards from years past. As I ruffled through that box in search of my gold “holiday card pen”, nostalgia whacked me in the head with a “card” written on a medical chart note from a doctor I once worked with who has since, sadly, passed away.

They (whoever “they” are) say that success comes from a strong belief in oneself- that if you don’t believe in your abilities, nothing else matters.  Well, I get that, and certainly buy into it- but there’s something unmeasurably powerful in having someone you admire unexpectedly declare their belief in you.  This past December, as I sifted through my rickety decoration box that harbored ribbons, bells, and old cards, I was reminded of that person who believed in me early on in my career.

Looking back at that note catapulted me back 12 years to Oshawa, a small town outside of Toronto (to the ppl who live there, it’s probably not small- but hey, I’m from the NYC area where any other city is comparatively “small”).  I could taste the steeped tea from the Tim Hortons coffee shop in the hospital lobby that we would drink on our breaks and recall conversations about gardening, genetics, and life.

The note read:

“Ushta, you probably haven’t started many jobs with a gift and a “card”, but it’s Christmas and I wanted you to know how much we all appreciate your work.  You hit the ground running and we’ll try not to keep you running too fast. Happy Holidays, Anne. PS, Sorry I ran out of cards.”

As I read, and reread the 4 lines in that note, a smile organically appeared and reminded me of one of the last conversations we had.  I was applying for a clinical genetic counseling position after working in a marketing role and had asked her to be a reference for me. She replied by stating, “I was wondering how long you’d be able to stay away from working directly with patients. You’ve got great talent- now go help patients and use it”.

Reading these notes all these years later is a gentle reminder that I am on the right path and somehow gives me the confidence to continue to take leaps.  So, as much as we prescribe tough love and rough it till you make it; along the way don’t forget to take the time to tell someone they’re simply doing a good job. You never know the lasting impact that it can have on them- like 12 yrs out a long way. Now go find a colleague, coworker, student, boss, friend, whomever and make a difference in their life.

What I Wish I Had Known Before I Left My Clinical Genetic Counseling Position

Three years into my career as a genetic counselor I decided to take the plunge and work for industry in a product management role. Back then, 10 yrs ago, the landscape of genetic counselors (GCs) working in industry, let alone in a marketing role was "atypical" to say the least.

There were many factors (some practical, others professional) that led me to transition from a traditional clinical role to one where I would not be directly seeing patients.

  1. Circumstance and Finance- I was looking to move back to NYC after a 1 yr stint in Canada and needed to find a job that would financially help me support having a husband in business school (and NYC rent!).

  2. I wanted more- I loved (and still do) working with patients and families. Hearing their stories, being their advocate, seeing the "ah ha" look when they understood what I was talking about, and just knowing that I was directly helping someone. But... within this clinical role, I found myself gravitating towards wanting to improve the operations and process of care. I wanted to reach a greater audience and use my skills to make sure genetics and genetic testing were being utilized in the "right" way.

  3. Belief from my hiring manager that I could do it- I clearly remember the day I saw the posting and reached out via email to the hiring manager asking if we could chat. I recall very honestly asking him, "I have zero marketing experience, why are you interested in hiring me, a genetic counselor?" I'll never forget his words, "I can easily teach the marketing bit, but what I can't do is give a marketing person all the first hand experience you've had with working in a clinic and with patients". Ok...that kinda made sense and I bought it.

These were some of the reasons that led me to take the leap (of course, with trepidation) and embark on the non-clinical trajectory. The first few weeks I felt like a total fish out of water; struggling to find my niche in foreign land. I had to gain skills in areas that I had never explored before while being surrounded by others where this information came at ease. Culture wise, the differences were also stark. Having only previously worked in hospital settings where funding is tight, it was shocking to have the occasional lunch meeting expensed and to take the corporate jet to attend meetings. Not to mention, have my full genetics conference fees covered!

What I didn't appreciate at the outset were the many things that would be uncovered about my passions, skills, and career while working in this new environment.

  1. Hidden Skills- I had a creative side that was itching to be unleashed. The job required me to get out of my comfort zone and use my skills in ways that I never thought I'd have to. I realized how much I loved transforming technical info into digestible peices and thinking about novel, creative ways to get the message out.

  2. Inner Advocate- In clinical work, I believed I was an advocate for my patients, and I truly was. However, I didn't realize how passionate I was about making sure that patients' needs are put first until I was put to the test of being surrounded by people who were marketing tests and products that never directly worked with patients.

  3. How Valuable my Clinical Experience Was- Having the insight of the inner workings of a clinic and the patient experience is what essentially landed me my job. It was also this experience that I heavily drew upon as I worked on developing products and services.

Overall, things seemed pretty much on the up and up... and then I got stuck. Not because I wasn't challenged or because there was a shortage of good work to be done. But stuck because I realized something was lacking within. While I got to be part of an effort to increase accessibility of genetic testing and genetic literacy to a larger audience, I personally really missed having the 1:1 impact and relationship with families. I went back to working for a university hospital, but this time in a role that fueled my interest in helping grow and develop a program while also building close connections with patients and families.

So what exactly are the things I wish I had known? If I could go back and whisper some advice to my young GC self, it would be:

  1. Your training has geared you up really well, not only in genetics, but also in communication- take this leap with confidence.

  2. That early clinical experience will often be the foundation that sets you forward. You will rely back on that foundation as it is what has shaped so much of the counselor that you are today.

  3. Embrace each experience that comes your way- even the ones that you hesitate over. There is always an opportunity to learn and great connections to be made. You just have to be open to receiving the lesson.

  4. Taking the leap to work for industry will absolutely set you in a different trajectory, but that this trajectory is not linear and can make curves and pauses as needed.

I have been fortunate enough to have worked in many capacities as a genetic counselor in many different settings. In each and every one of those roles I have walked away with not only lasting experiences but even more importantly lasting relationships and friendships with coworkers who continue to motivate, challenge and shape my career.

Is it Time to Introduce a Bit More "directiveness"​ in Our Counseling?

Recently I have had many conversations with my genetic counseling colleagues about one of the founding principles of our profession; non-directiveness. In these conversations, I am hearing more and more GCs express how in some situations, their directiveness has actually led to a more successful session. Have the needs of patients evolved since the time this principle was so firmly rooted in our profession?

The trend we are noticing is that patients are demanding a bit more directiveness in our counseling. It made me think a bit more about the history of why the field initially took it's roots in positioning itself as advocates of non-directive counseling. The intentions are from a good place, a place where we truly value the patients' autonomy in making their own decisions and to empower them with the information to make the best decisions for their health. But has the practice morphed into providing counseling in a way that is not so helpful in today's landscape of multiple options that patient's are faced with? Do we leave our patients more distressed when we say "well, that decision is totally up to you" when asked "what would you do?"?

We need to realize that being non-directive is not synonymous with void of having a professional opinion. Our patients seek our services for "expert advice". Quite simply, often they want to know "what would you- the expert do". The answer to this question will likely vary greatly based on the GC; as it should given that we are all individuals with vast experiences that lead us to our decisions. However, our training has or should have trained us to guide patients and direct them to decisions that fit and make sense within the context of their own lives. So really, it actually matters very little what I personally and specifically would do, but rather, what are the questions that I would ask and the process that leads me to get the answers that make the most sense.

While I think we can absolutely be non-directive when it comes to projecting our own opinions, there is certainly utility in being directive once you have drawn out what it is that the patient is truly seeking. What do you think? I would love to hear your thoughts on whether a sprinkle of directiveness is what patients may actually need.

What Would You Do?

It's the weighted question we all get; not just in a clinical setting, but personally too. I was inspired to write this post after a good friend and former colleague reached out to me and started the conversation by saying, "Ok, need to decide between 2 jobs. Be my mom and tell me what to do". My circumvented response, "Sure thing"; and then I went into a litany of questions.

You see, even if I were faced with the decision of choosing between these exact 2 jobs (insert any example of making a decision here), it wouldn't matter. First off, I probably would not have applied for the same jobs she did because our goals and interests vary. But secondly and more importantly, the criteria that may be most valuable to me, may be vastly different than hers. For example, what I value most in my life right now is the ability to do work that I love with a whole lot of flexibility. Her main goal or priority may be finding a job that fits her mission of being at the forefront of patient education while working for an organization that is deeply established.

What drives my decisions or informs my decisions is only naturally, organically going to be different than anyone else's. So how could I possibly tell someone else what to do?

So what is it that people actually need or want to hear when they ask, "What would you do?"?

They need you to ask the right questions and they need you to listen. Like, really listen. They are trusting your judgement and skills in being able to hear their story, concerns, and desires and your ability to ask the right questions to help them get to the right answers. In the clinical setting, this means guiding your patients through the decision making process while keeping in mind their clinical information and the answers/info they are seeking. I can tell you that from my own experience, I have had patients with almost the same clinical picture come to very different conclusions regarding how they should proceed with testing options. The questions I asked them were likely very similar, the conclusion we came to was very different because, well, we aren't all cookie-cutter people (thankfully!).

What amazes me about this process is that when you don't speak for the patient or your friend, you are allowing them to own their answers and decisions. This means that they have gone through the process of really synthesizing the information and have come to the best conclusion on their own (of course, with your assistance). So what ever did my friend decide to do with her job decision? She thought a lot about the questions we chatted about, reflected on what resonated with her, had a good nights rest, and came to her own conclusion - ultimately feeling a sense of relief and excitement about her decision. When you own your decision, you proceed with confidence knowing that you're making the best choice for the current moment that you are in.

When someone comes to you for advice, they come with a history and a whole lifetime of experiences that are so uniquely theirs. There is no possible way that you can assume you have the answers for them. Each person deserves the respect to have their story heard and the guidance to have a friend or clinical professional empower them to get to the point where they can own their decisions.

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.

Work-Life Balance Will Never Exist; Until you Figure This One Thing Out

Well, that's a weighted title if ever there was one!  The question of how to succeed professionally while still being present for my kids has mulled around in my head ever since I was expecting my first child (I now have 3!).  Over the past 8 years, I’ve tried out all permutations of the “work-life balance” from full time stay at home to full time work and some part time work and consulting thrown in the middle of those two.

When I decided to leave my position to stay at home with my first child, I received much criticism from others.  It was early on in my career and I was growing in a leadership role at a very desirable organization. The general gist of what I was being told by many went something like, “You have worked so hard and are so educated, why would you just give it all away?”.  The comments back then took me by surprise, but I now know that it is specifically all the hard work and education that allows me the freedom to make the decision to take a side step away from the workforce.  On the flip side, when I decided to go back to work full time with 2 kids, I equally received criticism about how I would be able to manage a demanding leadership role at work and take care of a family while working full time.  Notice how the naysayers never came back to talk about how all the education and hard work were now being put to use!? My point in sharing these anecdotes from my own experience is to highlight that caring about the perception of what others think will almost never leave you feeling whole.

So what’s the magic equation to finding that balance?  How do we figure out how to stay present with our families while growing professionally?  The reality is that what “balance” looks like will be very different from one person to the next.  The decisions we make are a culmination of all the lifetime experiences we’ve had. What’s going to look “balanced” for me, may tip your scales in side sweep motion- and that is A-OK because our society needs exactly this variety.  

In genetics, there’s this term called the “threshold effect”- this is where after a certain amount of a substance, drug, or exposure a shift happens and a change occurs. What’s fascinating is that each person likely has a different threshold - the point where the change will occur.  I think socially we function the same way- where we each have a different threshold for what makes us make decisions that impact the way we live; each of us holding a different threshold for what makes us happy. And this is so amazing, because this variety is what makes our world shine.

How does someone figure out if stay at home or work full time, or the inbetweeny part time work is the best fit? There really is no easy answer since different permutations will make sense for different times in your life. Simply put, the only way you’ll have balance is by reflecting on and figuring out what truly makes you happy.  And once you do-work really hard towards building that life. I think once we figure that out for ourselves, it suddenly matters very little what the next mom is doing. When we truly understand that the decisions we make for ourselves are the best decisions, there’s no room for judgement of others. It’s when we are in conflict of what feels right and what we are doing that we start to look all around us and question others’ decisions.

I know some moms who feel complete and whole when they are fully immersed into their full time careers, and others who are perpetually feeling a lack of something when they working.  For me, I may still be figuring all the kinks out. But I do know now to pay attention to what makes me feel whole, what makes me truly happy, and am working hard towards making that life work for my family.  When I am feeling whole, I can give my whole self to my family and to the patients that I want to help.

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:

Top 7 Lessons I've Learnt in Leading a Large Remote Genetic Counseling Team

I recently left my position leading a large team of bright, talented, witty, and compassionate genetic counselors. The past 3 years have been some of my most enjoyable professional years as I have learned how to grow as a leader while staying committed to my mission of providing optimal patient care in the context of genetic counseling. Below is a highlight of some of the top lessons I've walked away with.

  1. Take the time to hire well. Your job is easier if you have the right people in the right role. And once you have the right people in the right role, let them be part of major decisions that impact the team. 

  2. Let your people shine. Recognize team members' strengths and accordingly assign projects that will let them shine. Your success as a leader is directly correlated to how successful your team is- invest the time to help them be successful and confident in their roles.

  3. Start everyone off with trust until they give you a reason to not trust them. If you have done a good job hiring, know that you are bringing on competent, talented people. My team knows that I am famous for the saying, "I don't care when the work gets done, as long as it gets done". When your employees know that leadership values them as not only employees, but individuals with families and lives, they will give so much more back to the organization.

  4. Listen, really listen to what your team is concerned about. Knowing that they're heard goes a long way even if you can't change things. Let's face it, if you're a leader of a large team, chances are you're going to have to make some decisions that may not please everyone. And that's ok- your job isn't to please everyone, but knowing that your team feels heard can go a long way.

  5. Don't be afraid to not have all the answers. Honesty, while sometimes frustrating, is appreciated. You can lead with confidence without having all the answers. It's how you tackle the next steps that define you as a leader.

  6. Have meaningful 1:1 meetings where you really get to know your employees and the work that they are doing. This will equip you with knowing who best to delegate tasks to (this is key for the success of #7 below!).

  7. Learn to let go of taking the lead on certain projects (even the ones you may be most passionate about!). Trusting your teammates with tasks and projects is essential to free up your bandwidth so that you can focus on the bigger picture and be present for your team without feeling like you are always caught in the weeds.

In genetic counseling, we learn so much about the importance of listening, communication, and empathy. These are the probably the most valued skills that translate directly into successful leadership. I send a heartfelt thanks to all those I worked with who helped shape me as a leader and took a chance on many of the "out of the box" ideas I'd propose.

Personalized Genomics Does Not = Individual Genomics

These days there's a lot of buzz around "personalized genomics". Perhaps it's because I'm in the genetics field, but there isn't a day that goes by where I don't see an article, post, or ad that promises the hopes of how genomics or genetic testing can add value to your overall well being. As someone who started out in the field back when genetic testing, and genetic counseling for that matter, was infrequently talked about; these are indeed exciting times. We certainly have come a long way. But what's striking to me is that while I see an increase of media coverage about how genetic testing can impact individuals, I see less emphasis on the impact or importance of family health history.

To me, personalized genomics goes hand in hand with understanding not only an individuals specific genome, but also incorporating their family history. Clinically, we cannot operate in a vacuum- when assessing someone's personalized risk for genetic conditions, it's essential to consider more than the individual (if possible).

So you may ask yourself, "What's the big deal with fam history? If my genetic test says I'm at a low risk for heart disease, then I'm golden- bring on the burgers." And this is where I would say, "Not necessarily my friend". If for example you have a significant family history of heart disease, it's great that some genetic variants may have come back identifying you as "low risk", but that doesn't completely get you off the hook from being vigilant and informing your doctor of your family history of heart disease. You see, the test you had may have looked at some genetic risks for heart disease, but maybe not all. And maybe not specifically the genetic changes that are causing the heart disease in your family. The same goes for cancer risk. We can look specifically at your genome to assess your risk of certain cancers. If the test comes back that you didn't have the variants or changes in the gene that put you at a higher risk for cancer, that's great. BUT... it's not the whole piece of the puzzle if you have a specific family history of cancer. Perhaps the cancer occurring in your family is caused by another genetic change or variant that was NOT screened for on the test that you had. In this case, you're still at high risk and not really "off the hook" for screening. If on the other hand you know the exact genetic change/variant that caused the cancer in your family member and then you are screened for that very same variant and are negative or not found to have that change THEN you are off the hook and back to general population risk (notice how I didn't say 0 risk?!).

Ok, so I've probably convinced you by this point that we cannot ignore family history. But what if we just don't know it? The reality is that some families talk openly about health history, others don't and then there are people who just don't know much if anything about their biological family. Genetic testing can still be informative, but it may make assessing risk a bit more challenging.

My take home message and goal in writing this is to create more awareness about the nuances of personalized genomics and genetic testing. While the media may tout the promises of how genomics can revolutionize health- often we still need to bring it back to basics and ask the right questions to get the most meaning out of these results. The good news is, there is a whole profession dedicated to helping you make sense of this info and truly personalizing the results for you.