Evidence Supports Sequencing As First-Line Rare Disease Diagnostic
Evidence Supports Sequencing As First-Line Rare Disease Diagnostic
The Medical Genome Initiative presents a paper in an effort to expand patient access to sequencing
醫學基因組倡議發表了一篇論文，旨在擴大患者獲得測序的機會
Originally published on Illumina News Center
最初發表在 Illumina 新聞中心
NORTHAMPTON, MA / ACCESSWIRE / April 17, 2024 / A recent literature review, published in the Nature journal Genomic Medicine, showed that short-read genomic sequencing (GS) reduces the time it takes to diagnose and treat pediatric patients who may have a rare genetic condition. This evidence supports efforts to make GS the first-line standard of care, particularly for patients in neonatal intensive care units (NICU) and other critical care settings.
馬薩諸塞州北安普敦/ACCESSWIRE/2024 年 4 月 17 日 /最近的一篇文獻綜述，發表在 自然 日記 基因組醫學，表明短讀基因組測序（GS）可以縮短診斷和治療可能患有罕見遺傳病的兒科患者所需的時間。這些證據支持將GS作爲一線護理標準的努力，特別是對於新生兒重症監護病房（NICU）和其他重症監護環境中的患者。
"Historically we have used a stair-step approach to diagnose these conditions, starting with the least comprehensive tests," says Ryan Taft, PhD, vice president of Scientific Research at Illumina and an author of the study. "If the first efforts fail to produce a diagnosis, more sophisticated tests are then used, and eventually genomic sequencing is used as a last resort. But this approach wastes time and resources and can be emotionally devastating for families who are left without answers. The evidence shows that, in many cases, sequencing is the most effective diagnostic approach-whenever possible, we just use genome sequencing as our first port of call."
Illumina科學研究副總裁、該研究的作者瑞安·塔夫脫博士說：“從歷史上看，我們一直使用階梯式方法來診斷這些疾病，從最不全面的測試開始。”“如果最初的努力未能得出診斷，則使用更復雜的測試，最終將基因組測序作爲最後的手段。但是這種方法浪費了時間和資源，對於沒有答案的家庭來說，可能會在情感上造成毀滅性的後果。有證據表明，在許多情況下，測序是最有效的診斷方法——只要有可能，我們只使用基因組測序作爲我們的第一步。”
The study was conducted by the Medical Genome Initiative (MGI), a consortium of clinical genomic sequencing laboratories working to expand access to high-quality GS. As reported in their latest manuscript, there is significant evidence that genomic sequencing excels as a diagnostic test for rare genetic diseases, but clinical adoption has been unexpectedly slow.
該研究由醫學基因組倡議（MGI）進行，這是一個由臨床基因組測序實驗室組成的聯盟，致力於擴大獲得高質量基因組的途徑。正如他們在最新手稿中所報道的那樣，有大量證據表明基因組測序在罕見遺傳病的診斷測試方面表現出色，但臨床採用卻出人意料地緩慢。
To fully assess the evidence for GS in rare genetic disease populations, the MGI conducted a focused literature review and meta-analysis. A total of 71 papers met their criteria, published between January 2014 and August 2022, which included over 13,000 patients. The studies were evaluated based on their analysis strategies, including the types of variants analyzed, interpretation guidelines, health care settings, secondary findings, turnaround times, cohort phenotypes, diagnostic yields, and clinical utility.
爲了全面評估罕見遺傳病人群中遺傳學的證據，MGI進行了有針對性的文獻綜述和薈萃分析。在2014年1月至2022年8月期間發表的共有71篇論文符合他們的標準，其中包括超過13,000名患者。這些研究是根據其分析策略進行評估的，包括所分析的變異類型、解釋指南、醫療保健設置、次要發現、週轉時間、隊列表型、診斷結果和臨床效用。
Overall, the study found an average diagnostic yield of 45% for first-tier genomic sequencing, compared to 33% in groups that had received earlier genetic testing and 33% in patients who did not receive a diagnosis from exome sequencing. Clinical utility was reported by one-third of the studies. Changes in management described included outcome efficacy across diagnostic thinking, treatment, patient outcomes, and social impacts, and the authors found a broad range of reported rates of changes in management (20%-100%) since the methods used to assess clinical utility varied from one study to the next.
總體而言，該研究發現，第一級基因組測序的平均診斷率爲45％，而在較早接受基因檢測的組中，這一比例爲33％，未通過外顯子組測序得到診斷的患者爲33％。三分之一的研究報告了臨床效用。所描述的管理變化包括診斷思維、治療、患者預後和社會影響方面的療效，作者發現報告的管理變化率範圍很廣（20％-100％），因爲用於評估臨床效用的方法因一項研究而異。
"The evidence shows that, in many scenarios, genomic sequencing should be the first-line genetic test," Taft says. "Pediatric patients in intensive care units who have unexplained conditions should be first in line. Also, if a targeted panel doesn't include all the suspected genes that might be causing the child's condition, comprehensive genomic sequencing can fill those gaps."
塔夫脫說：“有證據表明，在許多情況下，基因組測序應該是一線基因測試。”“重症監護室中患有不明原因疾病的兒科患者應排在第一位。此外，如果靶向小組不包括所有可能導致兒童病情的可疑基因，則全面的基因組測序可以填補這些空白。”
In addition to offering high diagnostic yields, genomic sequencing is fast. Rapid approaches, pioneered over the past few years, can produce results in a matter of days, a capability that has been particularly beneficial for critically ill babies in NICUs. Less comprehensive alternatives to GS can waste precious time and delay much-needed diagnoses.
除了提供高診斷產量外，基因組測序速度也很快。在過去幾年中率先推出的快速方法可以在幾天之內產生結果，這種能力對新生兒重症監護病房的危重嬰兒特別有益。不太全面的GS替代方案可能會浪費寶貴的時間並延遲急需的診斷。
While this review highlights the many benefits of genomic sequencing in critical care settings, more work remains to be done. The authors found little published research on first-line GS in outpatient and other less urgent scenarios. Additional studies will be needed; however, for many patients, the evidence clearly supports the clinical efficacy of genomic sequencing.
儘管本綜述強調了基因組測序在重症監護環境中的諸多好處，但仍有更多工作要做。作者發現，關於門診和其他不太緊急情況下一線胃腸道炎的已發表的研究很少。還需要進行更多的研究；但是，對於許多患者來說，證據顯然支持基因組測序的臨床療效。
"There is still resistance to pursue genomic sequencing because of the perception that the price is too high," Taft says, "but this fails to account for recent dramatic reductions in GS costs and its impact on the downstream continuum of care. Getting precision answers sooner, particularly for patients with rare genetic disorders, is almost always the most cost-effective approach."
塔夫脫說：“由於人們認爲價格過高，人們仍然無法進行基因組測序，但這並不能解釋最近GS成本的大幅下降及其對下游連續護理的影響。更快地獲得精確答案，尤其是對於罕見遺傳疾病患者而言，幾乎總是最具成本效益的方法。”
Register here for the Medical Genome Initiative's webinar on April 25, 2024. Sponsored by Illumina, Dr. Kristen Wigby will speak on topics related to whole-genome sequencing for rare disease.
在這裏註冊 參加2024年4月25日醫學基因組倡議的網絡研討會。由Illumina贊助，克里斯汀·威格比博士將就與罕見疾病全基因組測序相關的話題發表演講。
View additional multimedia and more ESG storytelling from Illumina on 3blmedia.com.
在 3blmedia.com 上查看 Illumina 提供的更多多媒體和更多 ESG 故事。
Contact Info:
Spokesperson: Illumina
聯繫信息：
發言人：Illimina
SOURCE: Illumina
來源：Illumina
譯文內容由第三人軟體翻譯。