by 'sCommunications office

From 24 April to 4 June 2023, a survey was opened on the availability of genetic testing at the main Italian Medical Genetics laboratories of the NHS for patients with Cardiomyopathies. This survey, proposed to the laboratories belonging to the Group of 31 laboratories dealing with Cardio-Arrhythmias, was carried out with the contribution of Dr. Maria Iascone (director of the Medical Genetics Laboratory of the ASTT Papa Giovanni XXIII of Bergamo) and the Dr. Francesca Girolami (Cardiogenetics of the Meyer IRCCS University Hospital of Florence) together with AICARM APS (Italian Association of Cardiomyopathies). This initiative was part of the awareness campaign on the genetics of Cardiomyopathies that AICARM APS launched between 26 June and 2 July 2023, with a view to continuous patient support.

Participating laboratories

The survey was well received; in fact 22 Italian laboratories (of which 3 anonymously) completed the questionnaire.

Poll Results

  1. Number and type of tests performed

The participating laboratories collect a series of approximately 6500 genetic tests for Cardiomyopathies per year (tests for Arrhythmias are excluded), with an average of 293 tests/centre; 5 laboratories perform a number > 500 tests/year and 3 laboratories perform a number < 100 tests/year). Most genetic tests are performed for Hypertrophic Cardiomyopathy (40%) but the laboratories demonstrate different specializations, even very marked ones.



DCM Dilated cardiomyopathy; HCM Hypertrophic Cardiomyopathy; ARVC Arrhythmogenic cardiomyopathy of the right ventricle; Restrictive Restrictive cardiomyopathy; VSNC Left ventricle not compact; Not classifiable

  1. Prescription of the test, genetic counseling and methods of execution

Only in 8 laboratories is the genetic test prescribed by the Medical Geneticist, in 4 laboratories exclusively by the Cardiologist and in the other cases it is prescribed by both specialists. 78% of the laboratories consider genetic counseling an integral part of the genetic test (18 laboratories carry it out in a percentage > 75%; only 2 laboratories in a percentage < 25%). In most cases, the consultation is not carried out by a specialist in Medical Genetics, but by various professional figures including the Cardiologist. The genetic test is performed with Next Generation Sequencing (NGS) technology through analysis of panels of genes specific for Cardiomyopathies in most laboratories (13 laboratories); in other cases the exome study (WES) is used and in one center the genome study (WGS) with virtual panels restricted to the Cardiomyopathy genes. Heterogeneity is observed in the choice of panels and for 14 laboratories the panel design exclusively follows the current Guidelines (Hayesmoore JB et al. EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias. Eur J of Hum Genet).

  1. Waiting times to have the appointment for the test and to have the test result. Method of communicating the test result.

On average, the genetic test process (from the appointment to start the test to the delivery of the result) is approximately 6 months, of which 2 to arrive at the first appointment and 4 months to collect the genetic test. There is a lot of variability between the various laboratories and we can have a waiting list of less than a month for the first appointment up to 6 months and from 3-4 months up to 6-12 months for carrying out the test. Only 64% of laboratories deliver the result with genetic counseling; 1 center delivers the report by post and in the other cases both methods are used (for example only cases in which a causative variant is identified are delivered with genetic counseling, while negative reports are sent by post).

  1. Presence of a DNA biobank and a database dedicated to patients with Cardiomyopathy.

Only in 60% of the laboratories (13/22) is there a biobank to store the DNA once the genetic examination has been completed, while in 77% (17/22) of the laboratories there is a dedicated database.

  1. Reevaluation of Variants of Uncertain Significance (VUS)

Regarding the re-evaluation in light of new knowledge of any Variants of Uncertain Significance, there is heterogeneity between the laboratories: approximately half of the laboratories carry out a re-evaluation only upon request of the reference specialist (Cardiologist), while only 11 laboratories systematically carry out a re-evaluation every 1- 3 years.

  1. Barriers to carrying out the test, origin of the patients carrying out the test, presence of private laboratories carrying out the test.

80% of laboratories declare that there are no barriers to carrying out the test, while 4 laboratories have observed problems with regional reimbursements and the absence of exemption codes. In 7 laboratories the patients also come from other hospitals in the same region and in 15 laboratories from other regions, demonstrating that this is a significant phenomenon. 11 laboratories report being aware of private laboratories in the region that perform genetic tests for Cardiomyopathies, in particular there is a greater number of private laboratories around large cities such as Milan and Rome.


If we wanted to take these data emerging from the survey as a snapshot of the state of the art of genetic testing for cardiomyopathies in Italy performed in NHS laboratories, we could conclude that in the majority of cases the test is carried out together with genetic counselling, requires an average 3-6 months for its execution and delivery of the response and which is always carried out with NGS technology. Furthermore, the prescription is always the responsibility of a specialist whose typology is linked to regional directives, which can also determine differences in the validity of exemptions and therefore in the payment amounts of any tickets and in the figures and methods of reimbursement of the service for the structures who perform the exam. Although the use of NGS technologies has led to an increase in laboratories performing the test, a higher number of tests are observed in laboratories where there is specific cardiological expertise for patients with Cardiomyopathy.