When to refer primary care Genetic Testing

Key takeaway: Refer when you see multi-system symptoms with no unifying diagnosis, early onset or family clustering, developmental or cognitive concerns, refractory or sero-negative presentations, or progressive neurologic features. Referral takes ~1 minute; eligible patients receive a no-cost, at-home saliva test and genetic counseling.

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Why genetics is a primary-care decision... not just a specialist call

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Primary care teams see the pattern first. Patients bounce between clinics with symptoms that don’t neatly fit a single organ system. A targeted genetic test can shorten the diagnostic odyssey, guide referrals, and inform management—without adding friction to clinic flow. Probably Genetic’s referral flow is designed for PCPs: start the referral, and we handle eligibility, at-home saliva kit, and counseling at no cost to eligible patients.

The Quick-Screen: Five primary-care triggers for a genetics referral

Use this checklist during HPI/ROS or when a case stalls:

1. Multi-system, no unifying diagnosis
   Examples: neuro + GI + endocrine findings; unusually severe dyslipidemia or bone findings at a young age.
2. Early onset or strong family history
   Similar symptoms across relatives, early cataracts, tendon xanthomas, unexplained growth issues.
3. Developmental or cognitive concerns
   Global developmental delay, regression, syndromic features, or neurobehavioral overlays.
4. Refractory / sero-negative patterns
   Symptoms persist despite guideline-directed therapy; autoimmune workup negative but inflammation recurs.
5. Progressive neurologic features
   Ataxia, neuropathy, episodic weakness, seizures (esp. refractory to ≥2 meds), or sleep/autonomic combinations.

What patients (and clinicians) get through Probably Genetic

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Privacy matters: Patient data is protected with encryption, secure HTTPS, minimum-necessary access, and safeguards aligned with HIPAA; only aggregate, de-identified insights are shared for research partnerships—never identifiable patient information.

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How the referral works (and how little time it takes)

1. Start your referral – Provide your and the patient’s info (one form per patient).
2. Eligibility check – We contact the patient directly to confirm program eligibility.
3. At-home saliva kit → results + counseling – Eligible patients receive a kit at home and no-cost counseling with their results.

‍Clinic lift: ~1 minute to initiate; we handle the downstream steps.

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Primary-care scenarios that deserve a low-friction genetics rule-out

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How to talk about testing in a 60-second conversation

Because your symptoms span several systems, a genetic test can help us look for an underlying cause. If you’re eligible, the test and counseling are free, and the kit comes to your home. I’ll start the referral—look for an email with next steps

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FAQs (for PCPs)

Is it actually free?
Yes—patients who qualify for an active program receive genetic testing and counseling at no cost. Availability varies by program.

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What about privacy and data use?
Data are encrypted; access is restricted; practices align with HIPAA safeguards. Only aggregate, de-identified insights may be shared with research partners, never identifying information.

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Which conditions are covered?
Programs support a wide range of rare conditions (neurology, immunology, metabolic, etc.). See current program pages for specifics.

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What’s the timeline?
Patients complete eligibility in minutes; kits ship to the home with prepaid return; counseling accompanies results for eligible patients.

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