How You Can Simply Personalize Your Health Care; Right Now

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Family History

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

• Next Step- CONTACT A GENETIC COUNSELOR!

Ancestry Testing

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

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

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

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

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

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

Genetic Health Information

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

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

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

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

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

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

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

• Often, they aren't looking at ALL the genes responsible for the condition, just a subset. Also, keep in mind that even sitting here in November 2021, we may not even know all the variants that cause some of these conditions.

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

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

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

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

Privacy

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

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

Final Thoughts and Take Home Message!

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

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

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

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

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

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

By now, the turkey and apple pie leftovers are probably gone and your eyes are probably fatigued from seeking out post-Thanksgiving online deals (or reading this post). My parting words to you are to be informed and empowered to select the best test (if any) as you head into 2022. And, if you were kind enough to gift one of these tests to a friend or family member, do them a favor and pass along this post so that they too can be in the know!

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

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

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

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

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

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

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

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

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

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

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

Personalized Genomics Does Not = Individual Genomics

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

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

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

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

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