Pregnant? What You Should Know About All 6 Types of Genetic Testing Options 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 often 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 there is risk that you may miss something (when compared to diagnostic tests- more on this below)

• Some labs offer NIPT for microdeletions and microduplications. The chance that a positive result is a true positive (known as Positive Predictive Value) for these conditions can be low. It’s best to check these stats out with the lab that’s doing the test to have a better understanding of how to interpret the results.

• A positive (abnormal or increased risk) result does not mean your baby definitely 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 inherited genetic conditions.  The conditions screened for all impact childhood health and are not adult-onset 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

• It is not unusual to be told you are a carrier, especially if you’ve been screened on a larger panel. In fact, most people who are found to be a carrier state that they have no idea this condition ran in their family.

• A carrier is typically healthy and doesn’t show any symptoms (this is why you generally have no idea that you’re a carrier until you actually get tested).

• This test can be done even before you are pregnant since it is genetic info specific to you (and not the pregnancy).

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 (like first trimester screening or NIPT).

• Has risk for complications that could lead to miscarriage. Each center that performs these tests will have their own numbers for risks. On average, I’ve seen numbers anywhere from 1/200-1/700.

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 telehealth 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.

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.

Still Have questions about your results? schedule a telephone session with us.

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.

The Best DNA Testing Kits for Kids: What You Need to Know Before You Test

Before the not-so-long-ago days of mail in your DNA sample (via testing kits like 23andMe or AncestryDNA) - getting genetic testing for conditions that impact adults (ie, breast cancer, Alzheimer's, Parkinson's) was not something you heard of or even thought about for children. In fact, many professional genetics and pediatrics societies strongly urge against it. So fast forward to 2021 and now, without the guidance from a health care provider, you can easily order a testing kit online, have your kid spit in the tube, and get results for a multitude of conditions that you may have never even heard of, and that certainly won't impact your child's health until they are in adulthood.

So what's the big deal you ask? Isn't knowledge power? And shouldn't we as parents have the right to know if our child may be at an increased risk for health concerns in the future? And the answers to these questions are yes and kinda yes, respectively. Genetic testing for kids absolutely makes sense in some situations. These are the situations where a child may be presenting with health concerns that may span across many organ systems. In genetics, we often try to discern if something is an isolated finding (ie, a specific heart defect) or if it is part of a larger syndrome that could potentially impact multiple systems (ie, Noonan syndrome). In these situations, where there are clear health concerns, genetic testing can be really beneficial in getting you answers and connected to the right resources.

But what about if your child is healthy? The most common scenario we see with at home DNA testing is where someone sends in their child's DNA sample because they are curious about ancestry. Then a few weeks later they receive an email asking if they want to uncover the analysis of certain genetic health traits. The barrier to clicking "yes", due to the ease of ordering and the relative cost, is now very low.

When information about our future is so easily available, it's more challenging to pause and process what impact having that information will have.

The reason the professional genetics and pediatric societies urge against genetic testing for adult onset conditions is because having that information may do more harm than good. The big question that needs to be asked is "will this information alter the current way that we manage my child's health care?". And, if the answer to this is "No", then you probably shouldn't proceed with testing. So let's play out a scenario where you uncover that a 9 yr old has a BRCA1 variant and is at an increased lifetime risk for breast and ovarian cancer. This is very powerful information and will absolutely impact the health care of this individual- but definitely not at the age of 9. Knowing this information at the age of 9 will not impact or alter the management of this child's health care one bit. No additional screening or testing would be warranted or be helpful at this age. However, knowing this information at this early age can increase anxiety in the parents and child (if they are aware), can alter your relationship with your child (now you may subconsciously or consciously treat them differently knowing that they are at an increased risk for cancer.), and a host of other concerns that someone with a degree in psychology would be better suited to address.

The other layer of complexity with genetic testing of minors are issues surrounding privacy and autonomy. While most genetic testing companies have a layer of built in privacy measures, there are situations where your genetic information online may not be secure or can be linked back to you. In regards to autonomy; making the decision to do genetic testing on a minor for conditions that may occur in their adulthood, takes away their choice to know this information. That's right... your child, once they become an adult may not want to know some of this information. After doing this for years, I have seen how various people faced with the same risk make very different decisions about genetic testing. And the reason for this is that each person makes the best decision given what they know about themselves. For example, one person may absolutely want to know if they are at an increased risk for Alzheimer's because for them it would propel them to make modifications to lead a healthier lifestyle, or feel more in control of how they plan their future. Other people cannot bear the burden of knowing that they are at an increased risk and know that the information would cause more anxiety and stress in their lives than any potential positive outcome.

It may all start out with an easy to use test that gives you insight into your kids' ancestry - but I cannot urge you enough to stop and ask yourself the right questions.

It is much easier to take a pause as you sort out the questions in your head before you take a test than it is to unlearn the information that genetic testing results may give you.

Genetic testing companies may or may not educate consumers surrounding the risks of testing minors- but if you've made it this far in this article, hopefully you'll be armed with insight that can best guide you to make the best decisions for your family. And, if you find yourself in the not so uncommon position of not knowing whether testing is right for your or your child, reach out to a genetic counselor whose training and experience is specifically designed to help you.

Health Equity Starts with Information Equity

This week alone, I spoke with 8 couples in pretty much the same situation. The women were all around the same age and around the same gestation in early pregnancy.  So you would think that the testing options to learn about risks to their pregnancy would be the same, right? Well, I was surprised and a little shocked that almost each of them had a different understanding of what was offered and available to them. In fact, the only consistent thing was that they all felt a bit lost, overwhelmed and in need of some guidance.

So what is all the confusion over? For starters, all genetic testing is clumped together as just "genetic testing". Often, women are given a sheet of paper that has the different tests that are available and asked to choose which one they want with very minimal discussion surrounding what these tests are.  Here are some of the recurrent themes:

1. Carrier screening and NIPT are both genetic tests. So which one should I choose?

2. Do I need to do both NIPT and First trimester screen?

3. I was offered testing for CF and SMA, so I've already done carrier screening?

4. Hemoglobinopathy discussion is glossed over if not had at all in many people that are of at risk ethnicities.

5. I was offered expanded carrier screening for 500 conditions! More is better, right?

After doing telehealth for reproductive and prenatal genetic counseling for the past many years, both via my own practice as well as the work I do with Maven Clinic, it's clear that there are inequities in the information that women and couples in identical situations receive. 

I initially started a remote genetic counseling practice to create easier access to genetic information and counseling - but what I have come to realize is that the power is far greater. In doing telehealth, where I can give health information to people beyond my physical geographic location, I am creating access to equitable information. I am able to give independent and neutral information where I can discuss all potential options.

Having worked in a variety of settings, the unfortunate reality is that even when there is equitable information that is presented to a patient, the access to a particular test may be limited by what insurance plan they have and their ability to pay for that test. In addition, it is not uncommon for women to receive limited information about testing options based on what their insurance may cover. However, it is my opinion that the ethical lines are a bit stretched when health care providers limit access to information and test availability based on assumptions of whether someone can afford a test. Sure, it leads to a more difficult discussion about how there are testing options that may not realistically be within reach and highlights larger health inequities. However, for me, it is far more important to be the provider who informs people of their options, listens to their concerns, and empowers and guides them to make the best decisions that they can feel confident about.

How Your Podiatrist can Order Genetic Testing, But Your Genetic Counselor Can't

THE BACKGROUND

If you're in the field of genetics, you've likely heard chattering about oppositions to some interpretations of the HR3235 bill (not officially passed as yet).  And if not, here's a quick synopsis.  This bill provides coverage under Medicare of genetic counseling services that are performed by genetic counselors (GCs). This is huge since it recognizes Genetic Counselors as providers whereas currently Medicare/Insurance companies require that a physician be present to supervise GCs in order for a session to be conducted and paid for.  Genetic counselors have made great strides with obtaining state licensure and towards getting this bill passed.  Quick take home message- the passing of this bill will ultimately increase access to care for genetic services by significantly reducing wait times (there are more GCs than MDs who are specialized in genetic health), save overall healthcare costs (GCs bill less than MD counterparts for genetic counseling),  and decrease fraud (Providers who inappropriately bill Medicare for genetic testing that's not warranted).

WHO ARE GENETICS COUNSELORS?

Genetic counselors are master's trained genetics professionals who help patients understand risks related to family health history, review genetic testing options, help patients understand their results, and navigate patients through all of the above with our counseling skills so that they make the best decisions for themselves.  Sounds great, right!?  We and many of our patients think so, however, there's a professional society called the American College of Medical Genetics (ACMG) which feels that GCs should not be able to order tests independently and should work within the supervision of an MD trained in Genetics.  Genetic counselors are quite miffed by this since for years we've demonstrated that we are in fact very qualified to be part of the test ordering process and that limiting so, limits access to care for our patients. Recently, ACMG has gone as far as to say to states that provide licenses to GCs that allowing GCs to order tests could be problematic. However, here are 4 examples from our partners in care that think otherwise: \

1. Trusted By Large Hospital Administrators: GCs are increasingly sought out by hospital health systems for test utilization management. This means that hospital administrators have acknowledged having genetic counselors review genetic test orders from multiple specialties (ie, Neurology, Cardiology, Oncology etc) has had a significant positive impact on ensuring that the correct test is ordered (this means better outcomes for the patient) and that the most cost effective testing option is selected (this means saving $$$).

2. Trusted by Labs that Develop the Tests: A good genetic testing company will employ genetic counselors (my opinion- not fact).  Having a GC on staff helps with ensuring that the test that's developed has good clinical utility, ensures that ordering providers understand the benefits and limitations of the test, and provides a support to patients and providers in test ordering and interpretation of results.

3. Trusted by MD Colleagues: In my own experience, which mirrors many of my GC colleagues' experiences, our MD colleagues from various specialties often defer to genetic counselors when considering ordering genetic testing and when interpreting genetic testing results.  In fact, genetic counselors, alongside our OBs, MFMs, Oncologists etc have sat together with reps from the testing labs to discern which lab would be the best to work with. When patients come to their primary care doc with genetic testing results from direct to consumer testing, they turn around and refer the patient to us.  When variants of unknown significance pop up on test results, oncologists and cardiologists have referred patients to genetic counselors. 

4. Trusted by Insurance Companies: Many insurance payers require patients receive genetic counseling prior to testing and will in fact not cover the cost of testing if a patient has not had genetic counseling.  So again, here we have a large group of Medical Directors at large insurance companies valuing the input of genetic counselors to validate which test is the appropriate test to order, yet the irony is that GCs cannot order these tests ourselves.

So great, my above points highlight that GCs are valuable and competent to make decisions on ordering genetic testing. But the heartache here isn't that we simply are not able to put our signature on a test order form. The real issue is that this law significantly impacts access to care and overall workflow of getting appropriate care to patients on so many levels.]

Let's go through a typical scenario to highlight the workflow under the current paradigm.

CASE EXAMPLE:

A couple is considering IVF due to difficulty getting pregnant and pregnancy losses.

OPTION 1, AKA CURRENT STATE OF AFFAIRS:

Patient Sees GC --> GC evaluates nxt steps --> GC has to contact patient's primary physician to explain what tests should be ordered and from where (or have patient do this on their own) --> Patient is confused about why GC can't just do this --> Primary care doc may or may not agree to this --> Patient gets frustrated with the process --> GC spends way too much time coordinating which limits the number of other people they could be helping. 

OR

OPTION 2: IN A WORLD WHERE A GC CAN ORDER GENETIC TESTING:

Patient Sees GC --> GC evaluates nxt steps --> orders testing --> reviews results with the patient.

Note, in this scenario, if the GC is unable to appropriately assess the patient, the GC knows exactly how to get the patient connected with a Medical Geneticist or  Reproductive Endocrinologist who can then further assist.

WORKAROUNDS

So instead of relying on changes to legislation, workarounds have been created to help with access.  Since labs are unable to be the ordering provider for patients (conflict of interest here), they often contract with a 3rd party service that has a group of MDs that review the case and then "sign off" on it.  Some of these MDs are trained in genetics, where others may not be.  Again, while this does solve some of the problem in getting tests ordered, it underutilizes a large workforce of professionally trained genetic counselors who could create more effective access.

IN CONCLUSION

Genetic counselors have a unique skillset that enables them to understand all the nuances that can occur in a family medical history as well as help patients determine if genetic testing is in their best interest.  This process to evaluate the utility of genetic testing in an individual case takes time that many non-genetics providers may not have.  Limiting access to care that can be provided by genetic counselors ultimately hurts the patients that we could be seeing.  Patients are more likely to be shuffled around and wait long times to get the care that otherwise they would be able to if only GCs were recognized by insurance companies and Medicare as "providers".

So if we are trusted by labs, trusted by hospital admins, and trusted by the larger medical community; then why are we not allowed to be the ordering provider?

Look, we don't completely understand the logic in limiting our ability to order tests. Clearly we are trusted by many to help with this process, yet when it comes to the formality of independently ordering the testing, our hands are tied by the laws currently in place.  We value the relationship we have with our Medical Geneticists. And we know just when to refer patients to a medical geneticist (just this week I have referred 3 patients to a local genetics clinic for evaluation).  But what strikes us as strange is that the American College of Medical Genetics feels that any MD is better able to order a genetic test vs a genetic counselor. And that to us, and to many of our patients, and physician colleagues just makes no sense.

So this is why at this time, you'll have better luck having your podiatrist with an MD at the end of their name order that preconception genetic carrier screening you're considering than a prenatal genetic counselor. 

And if you want to be part of the change - support our state licensure efforts and encourage your physician colleagues to express their support as well.

Link to Bill HR 3235: https://www.congress.gov/bill/116th-congress/house-bill/3235/text

Ways to Support the Bill : https://www.hr3235.com/supporters

COVID-19 - What's Genetics Got to Do With It?

About a year ago headlines were swarming with articles about data protection and privacy in regards to genetic testing. Now, these headlines seem so distant and almost even trivial in light of the world-wide COVID-19 pandemic that we are all currently living in.

Genetic testing; especially in the realm of at home genetic testing, has come with it's concern of data privacy. Almost all of the patients I have spoken with have asked some variation of the questions, "What does the lab do with my data? Can they sell my genetic info? Can insurance companies discriminate based on my genetics?".

But now that we are faced with such a massive global health issues, I wonder if large scale genetic databases can actually give us some answers about COVID-19 and whose most at risk. And if so, sign me up to ship off my DNA to help with this effort.

While at first we were told that COVID-19 primarily impacts those over the age of 60 or those with underlying health issues; what we are now seeing is that it's affecting everyone- and at rates much higher than we originally thought. Each day I come across more reports of relatively young adults in great health who shockingly passed away from this disease. So it made me question deeply what potential other factors could be at play. All of us have genetic changes, or variations- and most of the times, these changes don't impact our health or wellbeing. But some of the times, changes in our genes, coupled with changes in our environment (both external and internal cellular environment) can trigger a significant impact. So I wonder if the reason that some seemingly healthy, young individuals who are getting serious complications and passing away from COVID-19 is because they have a certain genetic variant that puts them more at risk whereas others have another variant that makes them more resilient to the disease.

So could labs like 23andMe who harbor millions of genetic sequences potentially use their data to gather information about COVID-19 and genetic risks associated with severe outcomes? A quick google search shows that they have already initiated this efforts by creating a COVID-19 research study as well as several other labs such deCODE Genetics, Rockefeller University, and Ichan School of Medicine at Mount Sinai in NYC. Understanding how genetics impacts COVID-19 not only may give information on severity of disease manifestation, but also inform the biology of the disease which may help with treatment.

As with all things genetics, the big question to ask yourself is - would you want to know. Hypothetically if someone were to give you information on whether you are at high risk for severe symptoms and potentially death from COVID-19 vs lower risk based on your genetics; would you want to know this?

From my experience in exploring genetic testing options with patients, my guess is that the answer is not clear cut. For some, knowing if they are at high risk will propel them take precautionary measures much more seriously, whereas others may find that knowing that they are at a higher risk would add to an already anxious state and potentially do more harm than good. Either way, the recommendation of social distancing and staying home still paramounts any data or research we have to date on genetics and COVID-19, however, I look forward to parsing through the data once it's available.

The Most Cost-Effective way to Personalize Your Healthcare, 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.

Dear Dr. Google, You've Left me Confused

This is a story about how a simple internet search left an experienced genetic counselor baffled; questioning what info her patients are actually getting online.

A few weeks ago I had a patient who reached out to get some more information after she received news that her pregnancy may be at an increased risk for a genetic condition. She had just had her routine 20 week anatomy scan ultrasound and was told that her baby has an intracardiac echogenic focus. 

I took a big sigh of relief, knowing that this is a very common finding which most often is not associated with any problems. However, it had been a while since I researched this specific finding, and I wanted to brush up on whether there were any updates in the latest literature. I was also curious about what would come up if I googled the term "intracardiac echogenic focus", knowing that the patient reaching out to me has most likely already turned to the internet after receiving the news from her doctor. 

An old article from the 1980s was the very first entry that popped up at the top of the page. This particular article had very dated information; stating the risk to be much higher than what more up to date studies have indicated. I was shocked, and alarmed that this is the information that came to the top of the search page! I scrolled on to read more and more entries where information varied from "your risk is double your age related risk" to "this finding means nothing". After spending 30 minutes scouring the internet at popular sites and info from medical centers, even I was left feeling confused about all the conflicting information. Is echogenic focus a big nothing or a potentially high risk finding?! I quickly returned back to my more clinically based search of peer-reviewed published articles to make sure my facts were straight. However, I realized that most people will not be delving into peer reviewed journal articles to get more clarification or information after doctor visits. Most people will turn to Dr. Google and rely on the information they are getting from seemingly trustworthy sites.

I am not opposed to using the internet to get further clarification of medical information; and personally do find it very valuable to accompany the information my doctor discusses with me in tandem with information I obtain online. I also don't discourage my patients from searching the internet- because I know that they ultimately will since the reality is that it is helpful to hear the information in multiple ways. However, I always caution that internet stories tend to focus on the 2 extremes- the really scary severe situations or the really great outcomes. But often the average or middle of the road outcomes or experiences are not written about.

So where does that leave the non medical person who wants to turn to the internet for answers? Here are some of the considerations to keep in mind:

1. Feel free to search, but understand that there will be varying information that you will need to parse through.

2. The internet does not know your specific situation, results, or medical history- so the information you get is very general and not tailored to you or your needs.

3. You can spend hours of your time trying to ultimately get an answer that may not be the right answer for your specific situation. Context is key.

Fast forward to my actual session with the patient. She was naturally anxious about this information, but I found it interesting that even the information she was given about risks from her provider was different than what I imagine most of my genetic counseling colleagues would quote.

There's the information we receive, and then there's the perceptions of that information. And our perceptions are a culmination of all of our life experiences and data points; things we've read and conversations we've had that ultimately sway and form our perception. While the internet can give us information, it's a human that can really help with putting all that information in context of what matters the most for you.

The internet can be our backup fact checker, info seeker, and help with understanding certain medical terms and procedures. What it can't do is give you answers to questions that are very personal to you or parse out fact from anecdote. At the end of the day, even each provider comes with knowledge based on their training, experience, and own research and it is not unusual to get varying information from multiple providers. But the difference is that when you are speaking directly with a healthcare provider, you have the opportunity to ask your questions and get clarification that you otherwise would have to conclude on your own if you solely sought out info online. For example, I was able to explain to my patient where I got my risk estimates from and why they may have differed from what her provider gave her. Furthermore, she was able to ask me follow up questions about why there were differing risks and come to a conclusion and decision about the next steps that she felt confident about.

So, if you find yourself with facts spinning in your head from your internet searches, with no real conclusions- do yourself a favor; save time and instead shift gears to seek out the right healthcare provider to answer your questions. And if it happens to be anything genetics that is keeping you up at night, you can always find answers or guidance to the next steps at FiND Genetics. A smart person once told me, "I get it now. I'm not paying you for just the time you spend with me, I'm paying you for the 20 years of experience and training that allows you to give me this information in 15-30 minutes". - www.findgenetics.com

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.

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.