On man, there are so many considerations. Depending on your situation, some things become more important than others. Priorities can change from case to case. #GCchat https://twitter.com/charlene_preys/status/1334191701632692225

CLIA- bare minimum. CAP accreditation- better.

Insurance/Price- sad but true. Sometimes insurance dictates and there’s little you can do unless the family is willing/able to pay themselves. See if the lab you’d prefer has a pt assistance program. If you can do institutional billing, thank your lucky stars.

Reports- if I have to read it multiple times to understand it, then the patient’s non-genetic providers WILL misinterpret it.

Knowledge- Do they know that gene’s story? Are there pseudogenes, known deep intronic variants, common inversions? If they don’t know, bad sign. If they do know but don’t account for them in their assay, try to find someone who does.

Coverage/Resolution- for NGS, 10x? 100x? Are there any exons they can’t cover? For del/dup, can they confidently call deletions of 5 exons or more? 3 exons? 1 exon? ...

... They may quote you an average, but this will vary from gene to gene. If your get no variants in a gene you were sure of, call to double check the coverage of that gene.

Expert availability- if I call, can I get someone on the phone that can answer technical questions? Having GCs ready to take my call is huge. Even if they can’t give me an answer that second, I at least want to know they understand the question.

Customer service- If I call during business hours and get sent straight to voicemail, I’m mad. And then if they never call back, I’m done. And not responding to my email because I didn’t send it though their portal which I don’t have an account to .

Samples- accepting things beyond blood is a plus. Saliva kits in the age of Covid are big. Fibroblasts when dealing with cancer are important...

...If testing might be used for reproductive reasons in the future, I’d rather start at a lab that takes prenatal samples rather than have to start the search over when someone gets pregnant.

Sample retainment- how long do they hold DNA? If I want to add-on testing in 6 months, will it be there? If the parents get pregnant again in two years, will they still have a positive control from the proband?

Turn around time- most of the time, 3-5 weeks is fine. But if I need results, like, yesterday, do they have a stat pipeline? How stat is stat? If they can “try” to shave off a few days off their normal TAT, I’m looking for other options.

Do they contribute to ClinVar? If not, why not? If they’re small, maybe I’ll forgive them. If they’re big- no excuses.

VUS reclassification- do they reassess their VUSs regularly, or only upon request? When they do reclassify, do they try to notify you? How?

Ease of ordering- bad TRFs are annoying, but bad portals are worse. If there are an excessive number of “required” fields that I don’t have the answer to, I’m doing it on paper and leaving those blank. If it’s really that important, they’ll call me...

... If I have to enter the same info over and over because I can’t set defaults in their portal, I’m writing it on a paper TRF once and making copies.

Custom panels- if I want to add 2 more genes to a panel, can I? Will it cost double? Do I now have to build the panel manually in your portal that I hate?

Feedback- do they accept it gracefully? Will they listen when I (politely) say their reports suck and then actually fix them? Can they admit when they made a mistake and take steps to do better?

There is no one perfect lab that fits all of these things. No one will be an expert in everything, and your opinion will never line up 100% with theirs. Labs are run by humans, and humans have different priorities, different views, and they make mistakes.

Call them, build relationships with them. You can’t tell most of this stuff from their website.

Use whoever the best option is for that case at the time, with the info you have. They may not be the best option forever, or even for the very next case. With time, you’ll get a feel for who you want to work with and who will be best for your patient.