Roche launches newborn screening test for three severe genetic conditions

• This test expands Roche's early diagnostics portfolio by screening for Spinal Muscular Atrophy (SMA), Severe Combined Immunodeficiency Disease (SCID), and Sickle Cell Disease (SCD) simultaneously.
• Catching these conditions shortly after birth empowers clinicians to choose life-changing treatments sooner, before irreversible symptoms or permanent damage manifest.
• The IVDR-approved test provides private and academic hospital laboratories with a ready-to-use solution that easily integrates into existing workflows. 

Roche (SIX: RO, ROP; OTCQX: RHHBY) announced today that TIB MOLBIOL, a subsidiary of Roche Diagnostics, has launched the LightMix® Newborn TRECSMN1HBB kit, an in vitro diagnostic test for newborn screening in countries accepting the CE mark. The test simultaneously screens for Spinal Muscular Atrophy (SMA), Severe Combined Immunodeficiency Disease (SCID), and Sickle Cell Disease (SCD). This launch provides a crucial, ready-to-use solution for private and academic hospital labs, enabling the early detection of devastating conditions to drastically improve patient outcomes.

"When a baby is born with a condition like SMA or SCID, every single day counts," said Marcus Droege, CEO of TIB MOLBIOL. "Catching these diseases before symptoms appear isn't just about early diagnosis; it's the difference between a child thriving or facing severe, lifelong disability. By expanding our compliant newborn screening tools across Europe, we are helping laboratories transition to high-precision solutions that ensure no critical diagnosis is delayed."

Early diagnosis empowers clinicians with clear, actionable information, providing answers for patients and their families and enabling them to access the appropriate treatments sooner.  This screening test exemplifies Roche's integrated approach to healthcare by acting as a first-tier trigger for immediate follow-up testing and therapeutic intervention.

For example, after identifying SMA, a rare disorder causing progressive muscle weakness and nerve degeneration, at birth, clinicians can immediately initiate treatment with targeted therapies. Catching SMA early may halt severe nerve damage, prevent permanent disability, and allow for normal growth milestones¹.

Similarly, early detection of SCD allows for timely interventions, including preventive penicillin and specialised immunisations, which can drastically lower infant mortality².  In conditions like SCID, historically known as "bubble boy disease", infants lack a functioning immune system and are highly susceptible to severe infections. Early detection allows for lifesaving treatments such as bone marrow transplants before dangerous infections occur³.

The LightMix® Newborn TREC/SMN1/HBB kit runs on established LightCycler systems.

About the diseases
Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disorder causing progressive degeneration of nerve cells in the spinal cord, leading to muscle weakness. It is caused by homozygous deletions of survival motor neuron 1 (SMN1) exon 7. Early detection allows treatment to start before symptoms appear, leading to better muscle function.

Severe Combined Immunodeficiency (SCID) is a group of rare, life-threatening genetic disorders characterised by a lack of functioning T cells, leaving infants with virtually no immune system. Without prompt medical intervention, it is fatal within the first year or two of life.

Sickle Cell Disease (SCD) is an inherited red blood cell disorder caused by a genetic mutation in the HBB gene. Red blood cells become rigid and sickle-shaped, breaking down prematurely and blocking blood vessels. Timely care lowers the risk of severe infections, sudden spleen failure, and early childhood death.⁴

About TIB MOLBIOL
TIB MOLBIOL, a subsidiary of Roche Diagnostics, has supplied the global market with reagents for research and medical diagnostics since 1990. Started as a manufacturer of custom oligonucleotides, the company has built a broad portfolio of molecular PCR assays used in medical diagnostics, research, and industrial manufacturing worldwide. TIB MOLBIOL's portfolio of assays are available for LightCycler systems, cobas 5800/6800/8800 omni utility channels and digital LightCycler systems, particularly for infectious and genetic diseases. The assays are offered as ready-to-use kits for established syndromic panels, as well as modular kits that enable customers to create customized panels by combining individual assays. TIB MOLBIOL is headquartered in Berlin (Germany). For more information about the PCR assays and systems, please visit www.diagnostics.roche.com or www.tib-molbiol.com.

About Roche 
Roche (SIX: RO, ROP; OTCQX: RHHBY) is a healthcare company uniquely placed to prevent, stop and cure diseases by uniting leading science and technology across diagnostics, medicines and digital solutions.

Roche was founded in Basel, Switzerland in 1896 and today is a leading provider of transformative medicines and diagnostics for millions of people in over 150 countries around the world. It is dedicated to tackling healthcare challenges that place the greatest strain on patients, families, communities and healthcare systems. Across its Diagnostics and Pharmaceutical divisions, Roche focuses on areas including oncology, neurology, cardiovascular and metabolic diseases, ophthalmology, infectious diseases and immunology with the aim of providing real and positive change for patients, the people they love and the professionals who care for them.

Genentech in the United States is a fully owned subsidiary in the Roche Group. Roche is the majority shareholder in Chugai Pharmaceutical, a major innovator in the Japanese therapeutic antibody market.

For more information, please visit www.roche.com.

All trademarks used or mentioned in this release are protected by law.

References
[1] Phan HC, Taylor JL, Hannon H, Howell R. Newborn screening for spinal muscular atrophy: Anticipating an imminent need. Semin Perinatol. 2015 Apr;39(3):217-29. doi: 10.1053/j.semperi.2015.03.006. PMID: 25979781.

[2] Elendu C, Amaechi DC, Alakwe-Ojimba CE, Elendu TC, Elendu RC, Ayabazu CP, Aina TO, Aborisade O, Adenikinju JS. Understanding Sickle cell disease: Causes, symptoms, and treatment options. Medicine (Baltimore). 2023 Sep 22;102(38):e35237. doi: 10.1097/MD.0000000000035237. PMID: 37746969; PMCID: PMC10519513.  

[3] Biggs CM, Haddad E, Issekutz TB, Roifman CM, Turvey SE. Newborn screening for severe combined immunodeficiency: a primer for clinicians. CMAJ. 2017 Dec 18;189(50):E1551-E1557. doi: 10.1503/cmaj.170561. PMID: 29255099; PMCID: PMC5738248. 

[4] Ochocinski D, Dalal M, Black LV, Carr S, Lew J, Sullivan K, Kissoon N. Life-Threatening Infectious Complications in Sickle Cell Disease: A Concise Narrative Review. Front Pediatr. 2020 Feb 20;8:38. doi: 10.3389/fped.2020.00038. PMID: 32154192; PMCID: PMC7044152. 

For further information please contact
Yvette Petillon, Group Media Relations
Phone: +41 79 961 92 50
e-Mail: yvette.petillon@roche.com
Kathryn Ager, Senior Communications Business Partner Roche Diagnostics 
Phone: +44 7745 115046
e-Mail: kathryn.ager@roche.com
Brien Mahoney, Head of Communications Molecular Labs
Phone: +1 925-699-8512
e-Mail: brien.mahoney@roche.com 

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SOURCE Roche