Evidence map›Paper›PMID 40158019›Full record

ArticleNPJ digital medicine2025

Evaluation of the digital genetic assistant in technology assisted genetic counseling for genetic carrier screening.

Yuval Yaron, Vered Ofen Glassner, Michal Berkenstadt, Nurit Goldstein, Haike Reznik Wolf, Liat Ries Levavi, Liat Abo Gutstein, Yael Furman, Mori Anouchi, Galit Delmar and 5 more

Abstract read
In one paragraph

Article in NPJ digital medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed.

  1. Trial
  2. Article
  3. Review
  4. Article
  5. Article
  6. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors.

Yuval Yaron *The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel. yuvaly@tlvmc.gov.il.
Vered Ofen Glassner *The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Michal Berkenstadt *School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.
Nurit GoldsteinThe Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel.
Haike Reznik WolfThe Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel.
Liat Ries LevaviThe Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel.
Liat Abo GutsteinThe Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel.
Yael FurmanIgentify Ltd, Caesarea, Israel.
Mori AnouchiIgentify Ltd, Caesarea, Israel.
Galit DelmarIgentify Ltd, Caesarea, Israel.
Doron M BeharIgentify Ltd, Caesarea, Israel.
Elon PrasSchool of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.
Adi Reches *The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Alina Kurolap *The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Hagit Baris Feldman *The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel. hagitbf@tlvmc.gov.il.

Funding

The Israel Innovation Authority 68143
6 · The paper itself

Abstract

Rapid growth in genetic testing usage resulted in declining availability of genetic counselors (GCs) per ordered tests, prolonging the waiting times for face-to-face (F2F) counseling. We evaluated the digital genetic assistant (DGA) for reproductive genetic carrier screening (RGCS) in a real-life clinical setting using a "couple-based" paradigm. The platform provides digital patient intake and automated counseling for low-risk individuals, as well as GC-facing tools that reduce administrative burden in patient-related activities. Among 225 couples undergoing RGCS during the study period, 4% had high-risk results requiring F2F counseling and an additional 4% of low-risk couples requested F2F counseling, suggesting that DGA use reduced GC-participant F2F interactions by 69.3%. GC evaluations revealed that the DGA triaging algorithm was accurate and surveys demonstrated high degrees of user comprehension and satisfaction. These results highlight the utility of digital platforms for patient intake and delivery of low-risk results in settings with limited genetic counseling resources.

Identifiers

PMID40158019
PMCPMC11954912

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.