NGS Strategy Effectiveness in Molecular Diagnosis

Istituto Ortopedico Rizzoli400 enrolled

Overview

The coming out of Next Generation Sequencing (NGS) technologies, with documented advantages and reduced costs respect to Sanger sequencing, has provided new appealing approaches to diagnostic testing. Despite this, its use for routine diagnostic purposes requires certification in terms of reliability, as well as a cost-effectiveness evaluation. To test the feasibility of using the Ion Torrent Personal Genome Machine (PGM) in clinical diagnosis, we assessed its performance to detect point mutations and big rearrangements previously identified with standard techniques. The diagnostic accuracy and the cost-effectiveness will be evaluated by Health Technology Assessment (HTA) analyses.

Study Type

OBSERVATIONAL

Enrollment

400

Conditions

Multiple Osteochondroma Osteogenesis Imperfecta

Interventions

NGS molecular screeningDIAGNOSTIC_TEST

Outcomes

Primary Outcomes

Assessment of the accuracy of the Ion Torrent PGM platform for genetic variant detection (Diagnostic sensitivity evaluation)

The accuracy of the Ion Torrent Personal Genome (PGM) to identify disease-causing mutations in patients affected by Multiple Osteochondromas (MO) and Osteogenesis Imperfecta (OI) needs to be validated for its routine diagnostic clinical use. To asses this, we will compare results obtained with the new NGS approach with those previously obtained with standard techniques (DHPLC/Sanger + MLPA) in a number of MO and OI patients.

Time frame: at 30 months

HTA analysis to assess the cost-effectiveness, organizational and social implications of a screening strategy based on the IonPGM platform

To demonstrate the pertinence in the use of this innovative technology in health care, we will examine the medical, social and economic implications according with Health Technology Assessment (HTA), a multi-disciplinary field of policy analysis applied to many different health care technologies before their diffusion and use. HTA aims at evaluating the real effectiveness of medical interventions, their proper use, access criteria and qualitative improvements, the clinical and organizational benefits, therefore suggesting how to manage, promote and discourage them.

Time frame: at 36 months