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.

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.

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.