Update: Germline Testing and Heart Monitoring

After learning that there is a 50% chance of passing inherited gene mutations on to children, I applied for Color Health’s Family Testing Program where 1st degree relatives of people with confirmed genetic mutations can get tested for $50. My son’s insurance doesn’t cover genetic testing at all and I don’t qualify for it through my insurance due to not yet having a qualifying hereditary cancer diagnoses (myeloma isn’t considered hereditary) and not knowing my detailed family cancer history. I sent Color a copy of the detected MSH2, PTEN, and BRCA 2 gene mutations from my whole genome sequencing test and my application was denied. They told me that I needed clinical germline testing to qualify and not raw data from clinical grade whole genome sequencing.

Luckily an FSA account can be used to order germline testing and I needed to “use it or lose it” so I ordered kits from Color and Invitae. I should get those results back in a few weeks, hopefully before my appointment with a genetic counselor at the cancer center in March. The Invitae test covers some things that Color doesn’t and vice versa, which is why I got both. I’ll be making another blog post comparing Sequencing.com whole genome sequencing, Invitae, and Color when I get the results back.

This week I get to wear a heart monitor due to what seems to be lingering effects from having COVID at the end of September through October of 2022. I was struggling with COVID even with Paxlovid, I’m guessing due to having immunoparesis from Multiple Myeloma. My resting heart rate would go from the mid 100’s down to the 50s and it hasn’t returned to normal yet. It currently goes down into the 40s. Before COVID, it was regularly in the low 70s. I also started getting stabbing chest pains on the left side of my chest, and my blood pressure monitor started detecting irregular heart beats. I have high blood pressure now as well. Hopefully, the results from the heart monitor will help figure out what’s going on.

And now I wait for all the results…

2 thoughts on “Update: Germline Testing and Heart Monitoring

  1. Thank you for sharing your experience and we hope you get the answers you are looking for. If you ever decide to obtain 100% of your DNA through whole genome sequencing, please reach out to us and we can help you out.

    Once you have the data file from both providers, you can upload that data into our system. We have a One Genome technology that can combine both files and use the highest quality data from each file so you can run additional analysis.


    1. Thank you! Doing whole genome sequencing through you is how I found out about the mutations. Unfortunately, the germline testing provider (Color) couldn’t accept Genome Explorer screenshots as proof to have my family members tested as part of their program.


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