Evidence map›Paper›PMID 39565467›Full record

ArticleFamilial cancer2024

Cascade genetic testing in hereditary cancer: exploring the boundaries of the Italian legal framework.

Liliana Varesco, Francesco Di Tano, Juri Monducci, Stefania Sciallero, Daniela Turchetti, Claudia Bighin, Giulia Buzzatti, Irene Giannubilo, Lucia Trevisan, Linda Battistuzzi

Abstract read
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In one paragraph

Article in Familial cancer, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Observational
  5. Observational
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

10 authors.

Liliana VarescoUnit of Hereditary Cancer, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
Francesco Di TanoDepartment of Legal Studies, Alma Mater Studiorum, University of Bologna, Bologna, Italy.
Juri MonducciInterdepartmental Centre for Research in the History, Philosophy, and Sociology of Law and in Computer Science and Law (CIRSFID), Alma Mater Studiorum, University of Bologna, Bologna, Italy.
Stefania ScialleroMedical Oncology Unit 1, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
Daniela TurchettiCenter for Studies on Hereditary Cancer, Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
Claudia BighinMedical Oncology Unit 2, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
Giulia BuzzattiMedical Oncology Unit 2, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
Irene GiannubiloMedical Oncology Unit 2, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
Lucia TrevisanUnit of Hereditary Cancer, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
Linda BattistuzziMedical Oncology Unit 2, IRCCS Ospedale Policlinico San Martino, Genoa, Italy. linda.battistuzzi@unige.it.

Funding

Ministero della Salute Ricerca Corrente
6 · The paper itself

Abstract

Despite its clinical value, cascade genetic testing (CGT) in hereditary cancer syndromes remains underutilized for a number of reasons, including ineffective family communication of genetic risk information. Therefore, alternative strategies are being explored to improve CGT uptake rates; one such strategy is direct contact with at-risk relatives by healthcare professionals with proband consent. It is unclear how Italian laws and regulations pertaining to CGT-including the EU General Data Protection Regulation (GDPR)-should be understood and implemented in the context of such alternative strategies. The authors constructed a hypothetical case about CGT, reviewed laws and regulations on informed consent, privacy, and the right not to know, and analyzed how those laws and regulations might apply to different communicative strategies relevant to the case and aimed at supporting CGT. A constitutionally consistent reading of Italian law and of the GDPR, an integral part of the Italian privacy framework, suggests that multiple communicative approaches may be legally permissible in Italy to support the CGT process. This includes direct contact by healthcare professionals with proband consent, provided certain conditions are met. Understanding the effectiveness of such approaches in improving CGT uptake will require further research efforts.

Indexed as

Genetic TestingInformed ConsentGenetic CounselingGenetic Predisposition to DiseaseGenetic PrivacyHumansItalyNeoplastic Syndromes, HereditaryCascade genetic testingDirect contactGDPRHereditary cancerInformed consentPrivacyRight not to know

Identifiers

What OpenQuestion holds

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Read underepoch 390

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.