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

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.