Session 5: Reproductive Health, Family Planning & Genetic Counseling

Overview

For families living with a telomere biology disorder (TBD), few questions carry more weight than the ones about the future: should I have children, what are the chances I will pass this on, and what will pregnancy look like for my body or for a baby who may be affected. Session 5 of the 2026 Scientific Summit brought together a genetic counselor, a pulmonologist and genetic researcher, and a maternal-fetal medicine specialist to explore these questions from every angle, framed by the deeply personal story of one family who lived them in real time, long before most of today’s genetic testing tools existed.

Three themes ran through the session. First, genetic counseling itself, which refers to a conversation with a trained specialist about genetic risk, testing options, and what results mean, is a resource many families are not using enough, often because patients and providers do not always know to ask for it. Second, diagnosis is still evolving: even with today’s testing, a large share of suspected TBD patients receive a negative or inconclusive genetic result, and researchers are working on better tools to close that gap. Third, once a TBD diagnosis is confirmed or suspected, family planning and pregnancy require specialized, TBD-aware care, even though the published medical literature on TBD pregnancies remains thin. Together, these talks made the case that better answers for families depend on more genetic counselors in the room, more research into unresolved and negative results, and more clinicians willing to learn a rare disease well enough to guide patients through it.

Highlights from Each Talk

Genetic Counseling: A Rare Disease Perspective, Samantha Baxter, MS, CGC, Broad Institute of MIT and Harvard

Samantha Baxter, a genetic counselor at the Broad Institute of MIT and Harvard, explained why genetic counseling has value even before or without genetic testing. She walked through the three possible outcomes of a genetic test: positive (names the gene involved and can guide testing for relatives), inconclusive (also called a variant of uncertain significance, this is a DNA change was found but its effect isn’t yet known), and negative (doesn’t mean the diagnosis is wrong, only that today’s tests haven’t found the cause). Her key message: your DNA doesn’t change, but our ability to read and understand it does, so an unclear result today could become a clear answer within a few years.

Whole Genome Sequencing for Undiagnosed Short Telomere Pulmonary Fibrosis, Dr. David Zhang, Columbia University

Dr. David Zhang, a pulmonologist and genetic researcher at Columbia University, presented early data from a study funded by Team Telomere and Uplifting Athletes. At Columbia’s interstitial lung disease clinic, about 79% of patients tested for suspected genetic pulmonary fibrosis or short telomeres get a negative result on standard genetic testing. He explained that whole genome sequencing, which checks essentially all of a person’s DNA rather than just a gene panel or exome, can catch 13 to 40% of gene changes that those narrower tests miss. His team is now sequencing DNA from 40 patients with negative panels but strong clinical suspicion of TBD, aiming to build a tool that tells clinicians when deeper testing is worth pursuing.

OB/MFM Consideration in TBDs, Dr. Kate Swanson, Intermountain Health

Dr. Kate Swanson, an OB/GYN with fellowship training in maternal-fetal medicine and medical genetics, spoke about pregnancy in people with TBDs and emphasized that very little published research exists on TBD pregnancies specifically. Low blood cell counts affect about 14% of pregnant TBD patients in available data, and low platelets can complicate epidurals or C-sections, so she recommends regular blood count monitoring. For patients with pulmonary fibrosis, severe lung disease was linked to higher risk of preeclampsia and preterm birth, so she recommends checking lung function each trimester. For families with a known variant, she discussed IVF with pre-implantation genetic testing (PGT-M) to help reduce the chance of passing it on.

What This Means for the Field

This session showed that while the science and clinical tools available to TBD families are advancing, the field still needs more people, more data, and more research to catch up with patients’ real needs. Session co-chair Jennie Vagher, a certified genetic counselor (CGC) at University of Utah Health, opened by arguing that the shortage in this space is not a lack of genetic counselors but a lack of referrals to them, a theme that echoed through the talks that followed.

The panel discussion afterward underscored how much remains uncertain. An audience question raised the reality that a child can inherit short telomeres without inheriting the family’s known genetic variant, which complicates decisions around IVF and PGT-M, and Dr. Zhang noted that testing more family members together and not just the affected patient could sharply increase diagnostic yield, though convincing relatives to participate remains a practical hurdle. Newer approaches, including the long-read genome sequencing that is becoming available through research programs like All of Us, may further improve the odds of finding answers for families already tested without a clear result. One audience member, a genetic counselor who has worked in pulmonary fibrosis for 23 years, spoke to how much the field has grown while still calling for more providers to advocate for genetic counseling referrals. Overall, this session reiterated that improving outcomes for TBD families depend on connecting people to the specialists and tools that already exist, while continuing to build the evidence base for the questions that do not yet have answers.