Genetic Counseling — Setting Expectations

Genetic counseling is a structured conversation with a genetics professional who helps you understand:

• What your test results mean (and do not mean)
• How results affect reproductive options
• Which next steps matter most for your goals
• What is optional and what is essential
• Where genetic risk is real vs where it’s theoretical
• How choices upstream—like testing strategy, timing, and partner testing—affect downstream outcomes such as embryo prioritization, pregnancy risk, and costs

Think of it as the “navigation layer” of genetic testing—turning complex data into a clear roadmap.

It does not make decisions for you.
It does clarify decision points, probabilities, and trade-offs so you don’t waste cycles, money, or emotional bandwidth.

Who It Helps

Signals that genetic counseling is especially useful:

• Expanded carrier screening found a variant, and you’re unsure whether it’s mild, severe, or actionable
• Your partner has not been tested and you need to know whether they should be
• History of miscarriages, stillbirths, or an affected child
• Family history of early-onset conditions (e.g., cancer, neuromuscular disease, metabolic disorders)
• Confusing or conflicting lab reports
• PGT results that include mosaicism, VUS (variants of unknown significance), or uncertain copy-number findings
• You’re considering skipping genetic testing and want to understand the risk delta
• You want to build an embryo strategy (PGT vs morphology vs no testing)

When counseling may offer limited value:

• You and your partner are both negative for serious recessive conditions and have no family history
• The plan is straightforward (e.g., donor gametes with known carrier panel compatibility)
• You’re only looking for simple “normal/abnormal” interpretation (though even then, it can prevent over-testing)

Step-by-Step

A simple sequence with timing checkpoints to reduce stress:

1. Baseline intake

   • Personal/family history

   • Prior pregnancies, losses, or anomalies

   • Past labs or imaging (optimized if given beforehand)

2. Review of existing results

   • Carrier screening

   • Karyotyping

   • PGT-A / PGT-M / PGT-SR

   • Any flagged variants

3. Risk mapping

   • What matters clinically

   • What is low/neutral risk

   • What needs partner testing

   • What changes embryo selection or obstetric care

4. Decision checkpoints

   • Do you need more testing?

   • Does your partner?

   • Does the result change your fertility plan?

5. Plan consolidation

   • Embryo strategy

   • Testing timeline to avoid delaying cycles

   • Contingency paths

This structure protects timelines, clarifies expectations, and cuts down on unnecessary testing.

Pros & Cons

Balanced view of what genetic counseling adds—and its limitations.

Pros

• Converts complex genetics into actionable steps
• Prevents over-testing, under-testing, or redundancy
• Helps avoid unnecessary PGT or unnecessary anxiety
• Supports embryo decision-making (especially mosaics or borderline results)
• Clarifies real risk vs theoretical risk
• Often reduces cost by removing tests that don’t change outcomes

Cons / Limitations

• Not all counselors have fertility-specific expertise
• Some sessions can feel overly technical
• May recommend additional testing that adds time
• Availability varies by region; telehealth often easier
• Counseling cannot guarantee outcomes—it informs, not predicts

Costs & Logistics

What to expect financially and operationally:

• Session fees: often ₹4,000–₹12,000 (or $75–$250 internationally)
• Insurance/coverage: often covered if recommended by a clinician
• Partner testing: additional cost if advised
• Time: 30–45 minutes for most sessions
• Prep: upload prior results to avoid repeat sessions
• Tracking:

• • Testing ordered

  • Partner testing status

  • Lab turnaround times

  • Preauthorization requirements (especially for PGT)

A simple shared checklist prevents repeat appointments and surprise bills.

What Improves Outcomes

Actions that actually move the needle:

• Getting both partners tested when any recessive variant is identified
• Clarifying variant severity before deciding on PGT-M
• Reviewing PGT-A results with a counselor when mosaics or borderline calls are present
• Understanding VUS so you don’t overreact or delay care
• Choosing tests that change decisions, not “just because”
• Coordinating testing timelines so IVF cycles are not delayed

Actions that rarely matter:

• Very large expanded panels when partner testing is not possible
• Testing for low-impact conditions that do not change pregnancy care
• Repeating a normal test “just to be safe”
• Broad genetic screens without a clear decision endpoint

Case Study

From confusion to clarity with defined thresholds

A couple receives expanded carrier screening.
The female partner is a carrier for two rare recessive conditions.

They panic and assume PGT-M is necessary.

During genetic counseling:

• Counselor confirms both conditions are severe but extremely rare
• Advises partner testing only for the matching genes, not a full panel
• Extracts the severity classification and actual carrier frequency
• Outlines thresholds:

• • Both partners carriers → consider PGT-M

  • Only one carrier → no additional action needed

Outcome:

• Partner tests negative for both.
• No need for PGT-M, saving months of lab setup and ₹75,000–₹150,000+.
• The couple proceeds directly to embryo creation with confidence and no delay.

Mistakes to Avoid

• Assuming any “positive” result is severe
• Ordering partner testing without knowing which genes matter
• Feeling pressured into PGT-M before severity is clarified
• Skipping counseling when PGT results include mosaics or ambiguous calls
• Treating VUS as a disease-causing variant
• Repeating counseling because documents weren’t uploaded
• Letting testing timelines delay stimulation cycles unnecessarily

FAQs

Q. Do I need counseling if my panel was negative?

Ans : Often no—but helpful if you have family history or miscarriages.

Q. Is it necessary before IVF?

Ans : Not always. Essential only when results affect embryo strategy.

Q. Can counseling change the need for PGT?

Ans : Yes. Many couples discover they don’t need PGT-M after severity review.

Q. What if we already met with one counselor but still feel confused?

Ans : A fertility-focused genetics counselor can offer clearer, practical guidance.

Q. Will results delay my cycle?

Ans : Only if testing is ordered at the last minute. Good planning prevents delays.

Next Steps

• Free 15-min nurse consult
• Upload your labs
• Get a personalized cost breakdown for your case

Related Links

• Genetic testing carrier
• Intended Parents
• Become a Surrogate
• Fixed‑Cost Packages
• SART
• CDC ART
• ASRM