1.7 Referral Triage, Case Preparation & Records Review
Key Takeaways
- Domain 1A asks two separate questions about every referral: is genetics the right service (appropriateness), and how fast must it happen (urgency)?
- Time-critical genetics referrals are driven by hard external deadlines — gestational age limits, a scheduled surgery or therapy start, a critically ill neonate, or a dying relative who is the only informative person to test.
- Reported family history is unreliable: confirm key diagnoses with pathology reports, prior lab reports, and death certificates rather than accepting "she had female cancer."
- Ask for the actual laboratory report, not a summary — panel content, methodology, del/dup coverage, and classification date determine whether prior testing is informative or must be repeated.
- Case preparation is scored work: identify the informative person to test, confirm sample availability, arrange a qualified interpreter, and confirm who should attend before the session starts.
1.7 Referral Triage, Case Preparation & Records Review
Quick Answer: Triage answers two independent questions — appropriateness (is genetics the right service for this question?) and urgency (what external deadline is running?). Then prepare: pull pathology and prior lab reports, verify reported diagnoses with documentation, identify the most informative person to test, confirm sample availability, and arrange interpreter/attendance logistics before the visit.
Domain 1A allocates 13 scored items across medical history, teratogen exposure, differential diagnosis or indication, and appropriateness and urgency of referral. Two of ABGC's 37 task statements sit squarely here: assess case urgency, appropriateness, and logistics, and evaluate medical records and elicit additional pertinent information. Board stems phrase this as "what is the most appropriate next step?" before a single risk figure is calculated.
Appropriateness: is this a genetics question?
A referral is appropriate when a genetic evaluation could change a diagnosis, a risk estimate, a management plan, or a reproductive decision. It is inappropriate — or belongs elsewhere first — when the question is not genetic, when a prerequisite workup has not happened, or when another specialty owns the decision.
| Referral | Appropriate for genetics? | Best next step |
|---|---|---|
| Two first-degree relatives with early-onset colorectal cancer | Yes | Schedule; request pathology and any tumor MMR/MSI results first |
| Adult wants ancestry information only | No | Redirect; explain the difference between clinical and recreational testing |
| Child with global developmental delay, no prior workup | Yes | Schedule; genetics commonly initiates the CMA/exome pathway |
| Pregnant patient with a screen-positive NIPT | Yes, urgent | Confirm gestational age and screen result before triaging the slot |
| Patient wants a paternity determination | No | Redirect to appropriate legal/identity testing channels |
| Employer requests testing of an employee | No | Decline; this raises GINA Title II and consent problems |
| Relative of a known pathogenic variant carrier | Yes | Obtain the familial variant report before scheduling targeted testing |
Trap: treating "the referring physician sent them" as sufficient. If the referral question is unclear, the correct action is to contact the referring clinician and clarify the indication — not to spend a 60-minute slot reconstructing why the patient is there.
Urgency: what deadline is actually running?
Urgency in genetics is almost never about symptom severity. It is about an external clock that closes.
| Tier | Example indications | What the clock is |
|---|---|---|
| Emergent (hours–days) | Critically ill neonate or infant in the NICU/PICU where rapid exome or genome could change management; suspected inborn error of metabolism with decompensation | Clinical deterioration; rapid sequencing turnaround only helps if ordered now |
| Urgent (days–2 weeks) | Screen-positive NIPT or anomalous ultrasound; abnormal newborn screen; germline result needed before risk-reducing surgery or before starting a PARP inhibitor; a terminally ill relative who is the only affected person available to test | Gestational-age limits on CVS/amniocentesis and on pregnancy options; a scheduled operation; a therapy decision; a dying informative relative |
| Routine (weeks) | Asymptomatic cascade testing for a known familial variant; preconception carrier screening with no pregnancy; hereditary cancer risk assessment without pending surgery | No fixed deadline; standard scheduling |
| Deferrable | Predictive testing where the client is ambivalent or in acute crisis | Psychosocial readiness, not logistics — deferral here is a clinical decision, not a triage decision |
The deceased or dying relative problem
The single most time-sensitive non-pregnancy scenario on the exam is an affected relative in hospice. Testing the affected person is far more informative than testing an unaffected relative, and once that person dies the opportunity usually closes. Appropriate urgent action includes contacting the relative's team about sample collection, discussing banking DNA even if testing is not performed now, and asking whether stored pathology blocks or a newborn screening card exist. Do not defer this to a routine slot four months out.
Records review: what to obtain and why
Reported history is a hypothesis; documentation is evidence. Studies of family-history accuracy consistently find that reports of common cancers are frequently wrong in site, laterality, or age.
| Record | What it settles |
|---|---|
| Pathology reports | Actual tumor site and histology — "ovarian cancer" is often cervical, uterine, or metastatic; triple-negative breast pathology changes the differential |
| Prior genetic test reports (the full PDF) | Which genes were analyzed, methodology, whether deletion/duplication analysis was included, the classification and its date |
| Newborn screening results | Whether a metabolic condition was already excluded, and by which analyte |
| Imaging and echocardiograms | Aortic root measurements, structural anomalies, skeletal survey findings |
| Autopsy and fetal pathology | The only source of phenotype for a prior pregnancy loss |
| Obstetric records | Gestational dating, exposures, prior pregnancy outcomes |
| Death certificates | Confirmation of cause and age at death when medical records are unavailable |
Reading a prior test report critically
"She was tested and it was negative" is not usable information. Ask four questions of every prior report:
- What was on the panel? A 2014 two-gene BRCA1/2 test does not exclude PALB2, ATM, or Lynch genes.
- What method? Sequencing without del/dup analysis misses large rearrangements; a targeted familial-variant test excludes only that variant.
- When was it classified? A VUS from 2016 may now be pathogenic or benign — reclassification is the reason recontact policy exists.
- Who was tested? A negative result in an unaffected relative is far less informative than a negative in the affected proband — this is uninformative-negative territory, not reassurance.
Logistics that belong in the triage note
- Who should attend. A pediatric session may need both parents; a cascade session may usefully include the sibling; a predictive-testing session may deliberately exclude a coercive partner.
- Language access. Identify interpreter need at triage, not at the door. A qualified medical interpreter must be scheduled in advance; family members are not an acceptable substitute for consent conversations.
- Modality. Telegenetics may shorten the wait for a routine cascade case but is inappropriate when a physical examination or dysmorphology assessment drives the differential.
- Sample and specimen access. Confirm whether the informative relative is testable, whether stored tissue exists, and whether consent or next-of-kin authorization is needed.
- Coverage groundwork. Flag prior-authorization requirements at triage so the appointment is not wasted discovering them.
Common triage traps
- Booking a routine slot for a pregnant patient at 22 weeks whose diagnostic options are closing.
- Accepting "family history of cancer" without pathology, then building a pedigree and a risk model on the wrong tumor.
- Testing the unaffected worried relative because they are the one who called, when an affected relative is available and willing.
- Assuming a prior negative result is comprehensive without reading the report.
- Discovering at the visit that no interpreter was arranged, and proceeding anyway with a family member interpreting a consent discussion.
- Treating urgency and appropriateness as the same judgment — an urgent-sounding referral can still be the wrong service, and a calm-sounding one can be on a two-week clock.
A genetic counseling service receives four new referrals on the same day. Which should be triaged as the most urgent?
A consultand reports that her mother "was tested for the breast cancer genes about ten years ago and everything was normal." What is the most appropriate next step before risk assessment?
A woman calls about her family history of colorectal cancer. Her brother, the only affected relative, is in hospice with days to weeks of life expectancy. What is the most appropriate triage action?
Which referral is the clearest example of one that is NOT appropriate for a clinical genetic counseling service?