Myriad Genetics, Inc., (NASDAQ: MYGN), a leader in genetic testing
and precision medicine, today announced that Prenatal Diagnosis has
published a study1 demonstrating exceptional positive predictive
value (PPV) for 22q11.2 microdeletion screening using Myriad’s
prenatal cell-free DNA (pcfDNA) screen, Prequel®, which
incorporates fetal fraction amplification.
Prior studies from other commercial pcfDNA
laboratories have reported a broad range of PPV for the 22q11.2
microdeletion, with several well below 100%.2-6 The proprietary
AMPLIFY™ technology in Prequel increases the relative amount of
fetal-derived cfDNA more than two-fold on average and was
previously shown to increase analytical performance of 22q11.2
microdeletion screening.7 The current study shows the clinical
performance achieved by Prequel with AMPLIFY: among 22 patients who
screened positive for 22q11.2 microdeletion and had diagnostic
testing results available, all 22 were confirmed as positive (100%;
95% confidence interval: 84.6%-100%).
“With AMPLIFY, we've overcome a major technical
limitation of 22q11.2 microdeletion screening and observed a PPV
that we believe is among the highest published for a clinically
available prenatal cfDNA screening assay,” said Dale Muzzey, PhD,
Chief Scientific Officer, Myriad Genetics. “This is now the second
publication—one from Myriad and another from a separate
laboratory5—showing exemplary PPV for whole-genome-sequencing-based
pcfDNA screening. Notably, the PPV levels are considerably higher
than what has been reported for SNP-based pcfDNA screening, where
approximately half of reported positives were false
positives.”6
“These results are among the most promising our
field has seen for early 22q11.2DS detection. This study enables
greater confidence for providers when they receive positive
screening results for 22q11.2 microdeletion. Patients can be more
effectively guided toward further testing and management options
that are best suited for their situation,” said James Goldberg, MD,
FACOG, FACMG.
22q11.2 deletion syndrome (22q11.2DS), often called
DiGeorge syndrome, is caused by deletions on chromosome 22 (22q11.2
microdeletions). 22q11.2DS can result in a wide range of health
problems, including congenital heart defects and immune-system
disorders. Detecting 22q11.2DS during pregnancy allows for better
informed pregnancy management, including monitoring that can
improve outcomes for newborns. The American College of Medical
Genetics and Genomics recently recommended that 22q11.2DS screening
be offered to all pregnant patients.
About PrequelMyriad’s
Prequel® Prenatal Screen with AMPLIFY™ technology
provides pregnant patients with genetic insights into fetal
development and the health of the pregnancy as early as ten weeks.
The prenatal cfDNA screen can assess if a pregnancy is at an
increased risk for several chromosomal conditions like Down,
Edwards, or Patau syndrome, sex chromosome abnormalities, expanded
aneuploidies, and select microdeletions including 22q11.2. Prequel
is a whole-genome sequencing (WGS) based screening test that has
been described in eightications, including the study noted
here.1,7-13
About the studyThis study analyzed
the PPV of the 22q11.2 microdeletion detection using non-invasive
prenatal cfDNA screening that incorporates fetal-fraction
amplification. For patients who screened positive for 22q11.2
microdeletion, pregnancy outcome data, including ultrasound
findings and diagnostic testing results, were assessed.
Screen-positive calls were considered true positive when 22q11.2
microdeletion was subsequently confirmed by prenatal or postnatal
diagnostic testing.About Myriad
Genetics Myriad Genetics is a leading genetic testing
and precision medicine company dedicated to advancing health and
well-being for all. Myriad develops and offers genetic tests that
help assess the risk of developing disease or disease progression
and guide treatment decisions across medical specialties where
genetic insights can significantly improve patient care and lower
healthcare costs. For more information, visit
www.myriad.com.
Safe Harbor Statement This press
release contains “forward-looking statements” within the meaning of
the Private Securities Litigation Reform Act of 1995, including
that this study enables greater confidence for providers when they
receive positive screening results for 22q11.2 microdeletion and
patients can be more effectively guided toward further testing and
management options that are best suited for their situation. These
“forward-looking statements” are management’s expectations of
future events as of the date hereof and are subject to known and
unknown risks and uncertainties that could cause actual results,
conditions, and events to differ materially and adversely from
those anticipated. Such factors include those risks described in
the company’s filings with the U.S. Securities and Exchange
Commission, including the company’s Annual Report on Form 10-K
filed on February 28, 2024, as well as any updates to those risk
factors filed from time to time in the company’s Quarterly Reports
on Form 10-Q or Current Reports on Form 8-K. Myriad is not under
any obligation, and it expressly disclaims any obligation, to
update or alter any forward-looking statements, whether as a result
of new information, future events or otherwise except as required
by law.
References
1Hammer C, Pierson S, Acevedo A, Goldberg J,
Westover T, Chawla D, Mabey B, Muzzey D, Johansen Taber K. High
positive predictive value 22q11.2 microdeletion screening by
prenatal cell-free DNA testing that incorportates fetal fraction
amplification. Prenat Diagn. Epub 2024. doi: 10.1002/pd.6562.
2Gross SJ, Stosic M, McDonald-McGinn DM, Bassett
AS, Norvez A, Dhamankar R, Kobara K, Kirkizlar E, Zimmermann B,
Wayham N, Babiarz JE, Ryan A, Jinnett KN, Demko Z, Benn P. Clinical
experience with single-nucleotide polymorphism-based non-invasive
prenatal screening for 22q11.2 deletion syndrome. Ultrasound Obstet
Gynecol. 2016 Feb;47(2):177-83. doi: 10.1002/uog.15754. Epub 2016
Jan 5. PMID: 26396068; PMCID: PMC5064640.
3Martin K, Iyengar S, Kalyan A, Lan C, Simon AL,
Stosic M, Kobara K, Ravi H, Truong T, Ryan A, Demko ZP, Benn P.
Clinical experience with a single-nucleotide polymorphism-based
non-invasive prenatal test for five clinically significant
microdeletions. Clin Genet. 2018 Feb;93(2):293-300. doi:
10.1111/cge.13098. Epub 2017 Nov 17. PMID: 28696552.
4Helgeson J, Wardrop J, Boomer T, Almasri E, Paxton
WB, Saldivar JS, Dharajiya N, Monroe TJ, Farkas DH, Grosu DS,
McCullough RM. Clinical outcome of subchromosomal events detected
by whole-genome noninvasive prenatal testing. Prenat Diagn. 2015
Oct;35(10):999-1004. doi: 10.1002/pd.4640. Epub 2015 Jul 27. PMID:
26088833; PMCID: PMC5034801.
5Soster E, Dyr B, Rafalko J, Almasri E, Cacheris P.
Positive cfDNA screening results for 22q11.2 deletion
syndrome-Clinical and laboratory considerations. Front Genet. 2023
Mar 10;14:1146669. doi: 10.3389/fgene.2023.1146669. PMID: 36968594;
PMCID: PMC10036386.
6Dar P, Jacobsson B, Clifton R, Egbert M, Malone F,
Wapner RJ, Roman AS, Khalil A, Faro R, Madankumar R, Edwards L,
Strong N, Haeri S, Silver R, Vohra N, Hyett J, Demko Z, Martin K,
Rabinowitz M, Flood K, Carlsson Y, Doulaveris G, Daly S,
Hallingström M, MacPherson C, Kao C, Hakonarson H, Norton ME.
Cell-free DNA screening for prenatal detection of 22q11.2 deletion
syndrome. Am J Obstet Gynecol. 2022 Jul;227(1):79.e1-79.e11. doi:
10.1016/j.ajog.2022.01.002. Epub 2022 Jan 13. PMID: 35033576.
7Welker NC, Lee AK, Kjolby RAS, Wan HY, Theilmann
MR, Jeon D, Goldberg JD, Haas KR, Muzzey D, Chu CS. High-throughput
fetal fraction amplification increases analytical performance of
noninvasive prenatal screening. Genet Med. 2021 Mar;23(3):443-450.
doi: 10.1038/s41436-020-01009-5. Epub 2020 Nov 15. PMID: 33190143;
PMCID: PMC7935715.
8Artieri, C. G., Haverty, C., Evans, E. A.,
Goldberg, J. D., Haque, I. S., Yaron, Y., and Muzzey, D. (2017)
Noninvasive prenatal screening at low fetal fraction: comparing
whole-genome sequencing and single-nucleotide polymorphism methods.
Prenat Diagn, 37: 482–490. doi: 10.1002/pd.5036.
9Hancock S, Ben-Shachar R, Adusei C, Oyolu CB,
Evans EA, Kang HP, Haverty C, Muzzey D. Clinical experience across
the fetal-fraction spectrum of a non-invasive prenatal screening
approach with low test-failure rate. Ultrasound Obstet Gynecol.
2020 Sep;56(3):422-430. doi: 10.1002/uog.21904. PMID: 31671482;
PMCID: PMC7496885.
10Muzzey D, Goldberg JD, Haverty C. Noninvasive
prenatal screening for patients with high body mass index:
Evaluating the impact of a customized whole genome sequencing
workflow on sensitivity and residual risk. Prenat Diagn. 2020
Feb;40(3):333-341. doi: 10.1002/pd.5603. Epub 2019 Dec 20. PMID:
31697845; PMCID: PMC7065115.
11Kaseniit KE, Hogan GJ, D’Auria KM, Haverty C,
Muzzey D. Strategies to minimize false positives and interpret
novel microdeletions based on maternal copy-number variants in
87,000 noninvasive prenatal screens. BMC Med Genomics. 2018 Oct
19;11(1):90. Doi: 10.1186/s12920-018-0410-6. PMID: 30340588; PMCID:
PMC6194617.
12Arjunan A, Ben-Shachar R, Kostialik J, Johansen
Taber K, Lazarin GA, Denne E, Muzzey D, Haverty C.
Technology-Driven Noninvasive Prenatal Screening Results Disclosure
and Management. Telemed J E Health. 2020 Jan;26(1):8-17. doi:
10.1089/tmj.2018.0253. Epub 2019 Feb 26. PMID: 30807262; PMCID:
PMC6948005.
13Putra M, Kaseniit KE, Hicks MA, Muzzey D, Hackney
D. The impact of HBB-related hemoglobinopathies carrier status on
fetal fraction in noninvasive prenatal screening. Prenat Diagn.
2022 Apr;42(4):524-529. doi: 10.1002/pd.6127. Epub 2022 Mar 23.
PMID: 35224763; PMCID: PMC9311838.
Investor ContactMatt Scalo(801)
584-3532IR@myriad.com
Media ContactGlenn Farrell(385)
318-3718PR@myriad.com
Myriad Genetics (NASDAQ:MYGN)
Historical Stock Chart
From Apr 2024 to May 2024
Myriad Genetics (NASDAQ:MYGN)
Historical Stock Chart
From May 2023 to May 2024