Genomics Precision Diagnostic > Newborn Screening

Newborn Screening

Igenomix Newborn Screening is a comprehensive genetic test that analyses 237 genes using Next Generation Sequencing (NGS)

Newborn Screening
Benefits
Indications

Overview

In the UK, the NHS newborn blood spot test (also known as the heel prick test) uses biochemical methods to screen for 9 inherited disorders.
Igenomix has developed an advanced newborn screening test that uses genetic testing to detect a wider range of diseases.
The Igenomix Newborn Screening (Igenomix NBS) test is a comprehensive genetic test that analyses 237 genes using Next Generation Sequencing (NGS) technologies, allowing the detection of more than 200 actionable medical conditions.
For the NBS test, we accept a buccal swab or a blood sample.
Igenomix NBS incorporates all diseases from the conventional newborn screening (heel prick test), in addition to a wide range of diseases selected using evidence-based medicine.
The genes screened for cause genetic disorders that start in early childhood, such as metabolic, endocrine and immunodeficiency disorders.
Through early identification of these disorders, the goal of Igenomix NBS is to allow a timely intervention to prevent intellectual and physical disabilities, as well as life-threatening illnesses.
If requested, this test may also identify whether a child is a healthy carrier of any of these disorders, aiding reproductive choices for couples.
Support from a genetic counsellor is offered.

Benefits of Igenomix NBS

Igenomix NBS uses Next Generation Sequencing (NGS) technologies to perform NBS rather than biochemical methods such as tandem mass spectrometry (MS-MS).

May avoid the development of symptoms, some of which may be irreversible.
The use of DNA-based testing allows for screening of conditions that are not currently tested for using biochemical methods.
Detects actionable rare diseases and clarify ambiguous results.
Decreases morbidity and mortality of actionable diseases by allowing an early intervention to improve neonatal and long-term health outcomes.
Support from a genetic counsellor.
Improve prognostic utility and diagnostic yield, more so in diseases with variable presentation.
Allows for appropriate follow-up diagnostic investigations, clinical assessment, and treatment based on the genetic result.
Newborn screening by genetic testing can reduce the frequency of false-positive results.
Since NGS whole exome sequencing is used for the analysis, the patient’s data, if requested, will be saved for the option of additional analysis and diagnostics at any stage of life.
Supports reproductive decision making and family planning in the case of a positive result.
Results:
- 25 calendar days with Igenomix NBS (NGS technology).

Indication

Igenomix NBS screens for actionable genetic diseases and is indicated for all healthy newborns. This test may be performed as early as the first days of life, as early treatment is crucial to prevent complications and to improve the prognosis for the newborn.
Igenomix NBS is a genetic screening test aimed at healthy newborns – it is not a diagnostic test. Any newborn who shows symptoms of a disorder or has a family history of any of the diseases tested should be referred for diagnostic testing rather than a screening test.

Test Limitations

Analysis is restricted to the 237 genes included in our screening panel.
Interpretation of results will be performed according to current scientific knowledge, clinical evidence and the information available in genomic databases.
A negative result does not exclude the possibility of a genetic disorder, as the test is restricted by the number of genes analysed, current scientific knowledge, and the limitations of the technique used.
Newborn screening does not replace the potential value of carrier genetic testing (CGT) nor does carrier genetic testing replace newborn screening.

Criteria & Classification

What has been included and why?

The diseases included in the Igenomix Newborn Screening test have been selected for the following reasons:

Diseases with presentation in infancy
Diseases that have early clinical intervention
Conditions where the genetic cause and disease progression are well understood
Includes diseases with high prevalence

Examples of diseases included in the Igenomix NBS test that are not routinely screened for in the UK are shown in the table below:

Examples of disorders included in the Igenomix NBS test	Signs and Symptoms	Patient Management	Result after intervention or treatment
Spinal muscular atrophy (SMA)	Progressive muscle weakness and loss of movement due to muscle wasting, breathing and swallowing difficulties	Early initiation of gene therapy and supportive therapy	Improved quality of life and increased survival
Mucopolysaccharidosis II (Hunter syndrome)	Distinctive facial features, enlarged head, enlarged liver and/or spleen, umbilical or inguinal hernia, hearing loss, joint deformities and heart abnormalities	Bone marrow transplant, enzyme replacement therapy, orthopaedic surgery	Reduced accumulation of complex sugar molecules, improvement in physical symptoms
Hypophosphatasia	Abnormal bones and teeth, poor feeding, respiratory problems, short stature, skeletal abnormalities and high blood calcium levels	Enzyme replacement therapy, supportive therapy, orthopaedic surgery	Improvements in growth, respiratory function, motor development and calcium homeostasis
Lysosomal acid lipase deficiency (Wolman syndrome)	Abdominal bloating, calcium deposits in adrenal glands, developmental delay, jaundice, enlarged liver and spleen, malnutrition, failure to thrive	Enzyme replacement therapy	Improvement of symptoms and increased life expectancy
Wilson disease	Chronic liver disease, abdominal pain, jaundice, enlarged liver and spleen, and psychiatric symptoms	Early initiation of copper chelation therapy	Reduced accumulation of copper and prevention of irreversible damage
Hereditary hearing loss	Infants will most likely remain asymptomatic until early childhood where they will have trouble understanding words, hearing consonants, avoidance of social settings, etc.	Early initiation of hearing aids / cochlear implant, speech therapy and language therapy	Prevent developmental and speech delay
Severe combined immunodeficiency (SCID)*	Recurrent, increasingly severe infections (bacterial, fungal, and viral), and failure to thrive	Protective measures of prophylaxis with antibiotics, antifungals, antivirals, bone marrow transplant and antibody infusions	Reduced incidence of infections, improved prognosis
*a NHS SCID screening pilot study is currently being undertaken in ~two thirds of the newborn population in England

Genes & Diseases

Scientific evidence

Relevant related studies:

Title: ACOG Committee Opinion No. 778 Summary: Newborn Screening and the Role of the Obstetrician-Gynecologist

Authors: No authors listed

Publication: Obstet Gynecol. 2019 May;133(5):1073-1074. doi: 10.1097/AOG.0000000000003246.

PMID: 31022120

Federal Advisory Committees

Advisory Committees on Heritable Disorders in Newborns and Children

Recommended Uniform Screening Panel

Title: Next Generation Sequencing in Newborn Screening in the United Kingdom National Health Service

Authors: van Campen J C, Sollars E S A, Thomas R C, Bartlett C M, Milano A, Parker M D, Dawe J, Winship P R, Peck G,Grafham D, Kirk R J, Bonham J R, Goodeve A C, Dalton A

Publication: Int J Neonatal Screen. 2019 Dec;5(4):40. doi: 10.3390/ijns5040040. Epub 2019 Nov 5.

PMID: 31844782

Title: Updates in Newborn Screening

Author: Rajabi F

Publication: Pediatr Ann. 2018 May 1;47(5):e187-e190. doi: 10.3928/19382359-20180426-01.

PMID: 29750285

Title: A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism

Authors: Wang W, Yang J, Xue J, Mu W, Zhang X, Wu W, Xu M, Gong Y, Liu Y, Zhang Y, Xie X, Gu W, Bai J, Cram D S

Publication: BMC Med Genet. 2019 Jan 6;20(1):3. doi: 10.1186/s12881-018-0731-5.

PMID: 30612563

Title: Parents are interested in newborn genomic testing during the early postpartum period

Authors: Waisbren S E, Bäck D K, Liu C, Kalia S S, Ringer S A, Holm I A, Green R C

Publication: Genet Med. 2015 Jun;17(6):501-4. doi: 10.1038/gim.2014.139. Epub 2014 Dec 4.

PMID: 25474344

Title: Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project

Authors: Pereira S, Robinson J O, Gutierrez A M, Petersen D K, Hsu R L, Lee C H, Schwartz T S, Holm I A, Beggs A H, Green R C, McGuire A L, BabySeq Project Group Collaborators

Publication: Pediatrics. 2019 Jan;143(Suppl 1):S6-S13. doi: 10.1542/peds.2018-1099C.

PMID: 30600265

Igenomix and fertility

We work to make a world in which infertility is no longer an impossible barrier. Together with clinics and fertility specialists worldwide, we investigate human reproduction to change the lives of those who are trying to conceive.