NWU CHM Adapts to International Trends in Newborn Screening Practices

NWU CHM Adapts to International Trends in Newborn Screening Practices

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In a noteworthy shift aligning with international norms, the NBS laboratory at the NWU Centre for Human Metabolomics (CHM) is set to take comprehensive responsibility for the entire newborn screening program. This brings the Newborn Screening (NBS) collaboration between the North-West University (NWU) and Next Biosciences to a conclusion on the 31st of January 2024. We extend our sincere appreciation to Next Biosciences for their instrumental contributions in shaping the success of the NBS program.

Streamlining Services

This strategic adaptation will see the NWU Centre for Human Metabolomics (CHM) assume all responsibilities previously managed by Next Biosciences. This includes critical aspects such as marketing and awareness, education, and the follow-up and tracking of positive cases. Importantly, this transition is designed to ensure minimal disruption for clinicians and pathology practices.

Promoting NBS: A Global Health Achievement

NBS has been recognised by the Centre for Disease Control and Prevention as one of the greatest health achievements of the 21st century. With the current surge in NBS technologies and a global waning of immunisation coverage, it is likely to become the most important preventative intervention of our time. Over the coming months, the CHM will actively promote the NBS service through various media channels. Interactive electronic services will be linked to marketing materials, enabling parents to connect with the service, access education, and stay informed. The program will also re-engage with hospital groups and medical aids to ensure that stakeholders make informed and educated decisions with regards to NBS services.

Addressing the Rare Disease Challenge

The growing significance of rare disease patients is now at the forefront of healthcare considerations, with an estimated 350 million people globally affected by between 6 and 7 thousand rare diseases. These patients often incur a substantial share of healthcare budgets due to extended hospital stays and ineffective therapies, particularly when the diagnosis goes unnoticed. A comprehensive response to this challenge necessitates a combination of multidisciplinary expertise, sophisticated diagnostic services including gene sequencing, biobanking, repositories, and crucially, Newborn Screening (NBS). 

While NBS directly addresses a limited number of rare diseases, its panel encompasses more common conditions that can be treated with proven reliability and economic benefit. In 2024, the CHM and collaborative partners will launch a comprehensive training and education campaign. This initiative aims to equip clinicians with the knowledge and resources required to navigate the hidden burden of rare diseases, with a specific focus on integrating NBS into this training framework. The CHM is ready to provide CPD accredited training at no cost to both public and private healthcare sectors, including government institutions, private practitioners, hospital groups, and pathology practices. Feel free to reach out to us for further information and collaboration opportunities.

Strengthened Collaboration with Clinicians

Recognising the importance of sustained collaboration, the NBS lab will in future work closely with clinicians until a screen positive case is resolved with due consideration of the time constraints faced by clinicians. 

The NBS laboratory is committed to actively engaging with both parents of newborns and clinicians, ensuring effective communication and support throughout the process. This approach aims to streamline communication channels, fostering a collaborative environment that prioritises optimal patient outcomes.

Communication Protocols:

More specifically the NBS laboratory will engage with the parents of newborns and clinicians in the following ways:

  1. Normal Results: Parents will receive normal NBS results via SMS.
  2. Low-Risk Abnormal Results: Parents will be informed via SMS and telephonically, with follow-up testing details.
  3. Additional Testing Required: Clinicians will be notified telephonically and/or via SMS/WhatsApp, with options for the NBS laboratory to engage with parents for sample collection.

Stay Informed: Your Contact Points

For additional information and queries, please reach out to the following contact points:

Sample Reception and Client Services:

Phone: (018) 299 2312 (Press 2 to leave a message)

Email: pliem@nwu.ac.za

Services Liaison and Logistics:

Mrs Ansie Mienie

Phone: (018) 285 2544

Mobile: (082) 393 8505

Email: ansie.mienie@nwu.ac.za

Medical Scientist:

Mrs Brenda Klopper

Mobile: (084) 805 2739

Email: brenda.klopper@nwu.ac.za

Pathologist:

Prof Chris Vorster

Mobile: (083) 767 1747

Email: chris.vorster@nwu.ac.za

GCxGC-TOFMS Untargeted

Compound list

Spectra identified via comparison with library spectra

NMR Untargeted

Compound list

Spectra identified via comparison with library spectra

LDL Cholesterol Subfractions

Compound list

The LDL subfraction test measures up to twelve lipoprotein fractions and subfractions (VLDL, mid-bands A-C and LDL 1 through 7)

HDL Cholesterol Subfractions

Compound list

Separates and quantifies up to 10 HDL subfractions, classified from large buoyant HDL lipoproteins (HDL-L) to small-dense HDL lipoproteins (HDL-S).