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New DNA sequencer could make genetic testing cheaper and faster

NCT ID NCT07160010

Diagnosis Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting This study
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 26, 2026 · Last updated Jun 26, 2026

Summary

This study compares a new DNA sequencing platform (MGI) against the current standard (Illumina) for diagnosing hereditary cancers like breast and ovarian cancer, Lynch syndrome, and intestinal polyposis. Researchers will analyze 248 patient samples using both platforms to see if the new one is just as accurate. If it works, it could offer a more affordable option for genetic testing.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If successful, this could validate a more affordable sequencing platform for diagnosing hereditary cancers and genetic disorders, potentially expanding access to genetic testing.
What could go wrong
This is an early-stage validation study, not a treatment trial. The new platform may not match the accuracy of the current gold standard, and results may not apply to other tests or populations.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 248 people

The number the study aims to enrol. It can still change while the study runs.

Expected to start

Sep 2025

An estimate. Start dates often move.

Expected to finish

Dec 2026

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

The study will involve samples from patients with hereditary breast and ovarian cancer (HBOC), Lynch syndrome, and intestinal polyposis, who will undergo genetic testing using commercial solutions from Sophia Genetics, sequenced on Illumina platforms. It will also include samples from patients with rare and hereditary disorders, profiled using Sophia Genetics' commercial solutions and sequenced on Illumina platforms. Additionally, samples from patients with available genetic test reports will be included, as well as samples from patients who have previously consented and are aware of their genomic results.

Ages

18 years and older

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * Samples from patients with hereditary breast and ovarian cancer (HBOC), Lynch syndromes, and intestinal polyposis that will undergo genetic testing with commercial solutions provided by Sophia Genetics and sequenced on Illumina; * Samples from patients with rare and hereditary disorders that have been profiled with commercial solutions provided by Sophia Genetics and sequenced on Illumina; * Samples of patients for whom a report of the results is available; * Samples of patients who have previously consented and are aware if their genomic results. Exclusion Criteria: * patients for whom blood, DNA or tissue samples are not available for analysis; * samples that do not pass the quality check, set as DNA concentration, DNA integrity, library concentration and quality; * samples for which consent for future analysis has not be given.

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Conditions

The condition(s) this trial relates to.

breast cancer breast neoplasm Colorectal Neoplasms, Hereditary Nonpolyposis Cronkhite-Canada syndrome hereditary breast ovarian cancer syndrome intestinal polyposis syndrome Lynch syndrome ovarian cancer

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Breast cancer Intestinal polyposis Lynch syndrome Ovarian cancer

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  2. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

More trials for these conditions

Other studies related to the condition(s) this trial covers.