2026
Global Genomics &
Rare Disease Field Report

What we heard at six conferences across six countries in 2026, and the one word that ran through all of them.

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Inside the
Report

What are clinicians actually saying about long-read sequencing?
Why is the bottleneck shifting from finding variants to interpreting them?
Does long-read sequencing really raise diagnostic yield?
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Six conferences,
one keyword

Covered in report

ACMG 2026 Annual Clinical Genetics Meeting

Annual meeting of the American College of Medical Genetics and Genomics. The largest gathering in clinical genetics.

Baltimore, USA · March 10–14

Taiwan Human Genetics Society (THGS) Symposium

Human genetics.

Taipei, Taiwan · April 12

Genomic and Genetic Technologies in Clinical Practice

Clinical genetics.

Almaty, Kazakhstan · June 3–4

Covered in report

ESHG 2026 European Human Genetics Conference

Europe's largest human genetics meeting, spanning research, diagnostics, clinical practice, and ethics.

Gothenburg, Sweden · June 13–16

CEPCAL 2026 — 3rd Congress on Rare Diseases in Latin America and the Caribbean

A rare disease congress bringing together clinicians and researchers alongside patient organizations, policymakers, and industry.

Antigua, Guatemala · June 17–19

Covered in report

SSIEM 2026 Annual Symposium

Inborn errors of metabolism — the annual meeting of SSIEM.

Helsinki, Finland · August 25–28

Six settings that could hardly be more different.
One word that kept coming up.

Different health systems. Different audiences. The same conversation. In 2026 our team attended six genomics and rare disease conferences in person. When we gathered the conversations from our booths and the discussions from the sessions, one word kept coming up: long-read. This report is a record of what we saw and heard on the ground, alongside the recent research that is beginning to answer the questions clinicians are asking. See what we found.

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