Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methods

Ferket, Bart S.; Baldwin, Z.; Murali, Priyanka; Pai, Akila; Mittendorf, Kathleen F.; Russell, Heidi V.; Chen, Flavia; Lynch, Frances L.; Lich, Kristen Hassmiller; Hindorff, Lucia A.; Savich, Renate; Slavotinek, Anne; Smith, Hadley Stevens; Gelb, Bruce D.; Veenstra, David L.

doi:10.1016/j.gim.2022.06.004

Cited by 6 publications

(3 citation statements)

References 41 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The patient may also be eligible for clinical trials. There are studies reporting how early application of ES/GS could be overall cost-effective even though the cost for ES/GS is initially high, as cost for multiple diagnostic testing and medical intervention within the undiagnosed period is dropped [17,18]. This is consistent with the American College of Medical Genetics and Genomics (ACMG) recommending ES and GS as a first-line test for patients with congenital anomalies or intellectual disability [19].…”

Section: Introductionmentioning

confidence: 61%

“…Reference laboratories typically offer a complimentary reanalysis of the ES or GS data six months to a year after the initial testing is done [59,64] although more frequent free reanalysis at a shorter interval could be offered [52]. Achieving a new molecular diagnosis through reanalysis is a cost-effective approach for patients undiagnosed after ES or GS, and it is expected to become a routine clinical practice [17,64].…”

Section: Next Steps For Exome/genome-negative Patientsmentioning

confidence: 99%

See 1 more Smart Citation

Exome and genome sequencing for diagnosing patients with suspected rare genetic disease

Seo,

Lee

2023

J Genet Med

View full text Add to dashboard Cite

Rare diseases, even though defined as fewer than 20,000 in South Korea, with over 8,000 rare Mendelian disorders having been identified, they collectively impact 6-8% of the global population. Many of the rare diseases pose significant challenges to patients, patients' families, and the healthcare system. The diagnostic journey for rare disease patients is often lengthy and arduous, hampered by the genetic diversity and phenotypic complexity of these conditions. With the advent of nextgeneration sequencing technology and clinical implementation of exome sequencing (ES) and genome sequencing (GS), the diagnostic rate for rare diseases is 25-50% depending on the disease category. It is also allowing more rapid new gene-disease association discovery and equipping us to practice precision medicine by offering tailored medical management plans, early intervention, family planning options. However, a substantial number of patients remain undiagnosed, and it could be due to several factors. Some may not have genetic disorders. Some may have disease-causing variants that are not detectable or interpretable by ES and GS. It's also possible that some patient might have a disease-causing variant in a gene that hasn't yet been linked to a disease. For patients who remain undiagnosed, reanalysis of existing data has shown promises in providing new molecular diagnoses achieved by new gene-disease associations, new variant discovery, and variant reclassification, leading to a 5-10% increase in the diagnostic rate. More advanced approach such as long-read sequencing, transcriptome sequencing and integration of multi-omics data may provide potential values in uncovering elusive genetic causes.

show abstract

Section: Introductionmentioning

confidence: 61%

Section: Next Steps For Exome/genome-negative Patientsmentioning

confidence: 99%

Exome and genome sequencing for diagnosing patients with suspected rare genetic disease

Seo,

Lee

2023

J Genet Med

View full text Add to dashboard Cite

show abstract

“…In a sense, this situation may appear understandable, considering the limited resources to sustain the umbrella-type health insurance system. It will be increasingly important to assess the long-term impact of optimal investments in preventive medicine on the NHIS and the economy overall 69 .…”

Section: Prospect Of Wgs In Cgmmentioning

confidence: 99%

The evolution of cancer genomic medicine in Japan and the role of the National Cancer Center Japan

Yoshida¹,

Yatabe

Kato³

et al. 2023

Cancer Biol Med

View full text Add to dashboard Cite

The journey to implement cancer genomic medicine (CGM) in oncology practice began in the 1980s, which is considered the dawn of genetic and genomic cancer research. At the time, a variety of activating oncogenic alterations and their functional significance were unveiled in cancer cells, which led to the development of molecular targeted therapies in the 2000s and beyond. Although CGM is still a relatively new discipline and it is difficult to predict to what extent CGM will benefit the diverse pool of cancer patients, the National Cancer Center (NCC) of Japan has already contributed considerably to CGM advancement for the conquest of cancer. Looking back at these past achievements of the NCC, we predict that the future of CGM will involve the following: 1) A biobank of paired cancerous and non-cancerous tissues and cells from various cancer types and stages will be developed. The quantity and quality of these samples will be compatible with omics analyses. All biobank samples will be linked to longitudinal clinical information. 2) New technologies, such as whole-genome sequencing and artificial intelligence, will be introduced and new bioresources for functional and pharmacologic analyses (e.g., a patient-derived xenograft library) will be systematically deployed. 3) Fast and bidirectional translational research (bench-to-bedside and bedside-to-bench) performed by basic researchers and clinical investigators, preferably working alongside each other at the same institution, will be implemented; 4) Close collaborations between academia, industry, regulatory bodies, and funding agencies will be established. 5) There will be an investment in the other branch of CGM, personalized preventive medicine, based on the individual’s genetic predisposition to cancer.

show abstract

Outcomes and Associated Extracardiac Malformations in Neonates from Colombia with Severe Congenital Heart Disease

Alvarado,

Bermon,

Florez

et al. 2023

Pediatr Cardiol

View full text Add to dashboard Cite

Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methods

Cited by 6 publications

References 41 publications

Exome and genome sequencing for diagnosing patients with suspected rare genetic disease

Exome and genome sequencing for diagnosing patients with suspected rare genetic disease

The evolution of cancer genomic medicine in Japan and the role of the National Cancer Center Japan

Outcomes and Associated Extracardiac Malformations in Neonates from Colombia with Severe Congenital Heart Disease

Contact Info

Product

Resources

About