Evidence map›Paper›PMID 39797934›Full record

ArticleJournal of community genetics2025

Clinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study.

Lea Godino, Enrico Ambrosini, Valeria Barili, Claudio Graziano, Livia Garavelli, Olga Calabrese, Marcella Neri, Luca Sangiorgi, Benedetta Bertonazzi, Giovanni Innella and 2 more

Abstract read
In one paragraph

Article in Journal of community genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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

12 authors.

Lea Godino *Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.ORCID http://orcid.org/0000-0002-3763-9372
Enrico Ambrosini *Medical Genetics Unit, University Hospital of Parma, Parma, Italy.ORCID http://orcid.org/0000-0002-7520-3721
Valeria Barili *Medical Genetics, Department of Medicine and Surgery, University of Parma, Parma, Italy.ORCID http://orcid.org/0000-0001-7711-2156
Claudio GrazianoMedical Genetics Unit, AUSL Romagna, Cesena, Italy.ORCID http://orcid.org/0000-0003-3875-6869
Livia GaravelliMedical Genetics Unit, Azienda USL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.ORCID http://orcid.org/0000-0002-7684-3982
Olga CalabreseMedical Genetic Unit, University Hospital of Modena, Modena, Italy.ORCID http://orcid.org/0000-0001-8947-5990
Marcella NeriMedical Genetics Unit, Department of Mother and Child, Sant'Anna University Hospital of Ferrara, Ferrara, Italy.ORCID http://orcid.org/0000-0001-6133-9831
Luca SangiorgiDepartment of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.ORCID http://orcid.org/0000-0003-3658-1209
Benedetta BertonazziIRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Giovanni InnellaMedical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.ORCID http://orcid.org/0000-0002-6909-2412
Daniela TurchettiMedical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy. daniela.turchetti@unibo.it.ORCID http://orcid.org/0000-0002-6792-3921
Antonio PercesepeMedical Genetics Unit, University Hospital of Parma, Parma, Italy.ORCID http://orcid.org/0000-0002-3268-6786

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In 2002, in the Emilia-Romagna region of Italy, a comprehensive strategic plan was developed with the aim of improving the integration and efficiency of the genetic services. Two decades later, this report aims to explore the current functioning of the regional network, with special focus on clinical genetics in the evolving scenarios. To this aim, we analyzed the activity data of the medical genetics services in the region, to identify and possibly improve currently open issues. This is a mixed-method study, analyzing quantitatively and qualitatively the activities of seven medical genetics services in Emilia-Romagna region. Quantitative analysis considered the number of consultations and the composition of the staff in the year 2021. Qualitative analysis examined a focus group of directors of the services through reflexive thematic analysis. A total of 14,925 counseling sessions have been delivered by the medical genetics services, staffed with 22.4 full-time equivalent clinical geneticists. A physician performed an average of 14.5 consultations per week and approximately 1166 h of patient care per year. The clinical geneticists/inhabitants ratio was 0.54 per 100,000 inhabitants, and it is estimated that one every 278 inhabitants, on average, underwent a genetic counseling session in 2021. Qualitative analysis highlighted issues concerning patients' access to service, general organization and staff composition. In order to meet the growing demand for genetic counseling services, expansion of the workforce and adjustment of current practice models are required to increase the access to genetic services and the application of test results to clinical management.

Indexed as

Genetic counsellingMixed-method designStaffingWorkforce

Identifiers

PMID39797934
PMCPMC11998275

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Registered trials

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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.