Download PDF
CC BY 4.0 · Indian J Med Paediatr Oncol 2024; 45(02): 142-146
DOI: 10.1055/s-0043-1770936
Original Article

A Survey on Unmet Need for Uniform Next-Generation Sequencing Reporting in India

Neha Pathak 
1   Medical Oncology, Institute of Liver and Biliary Sciences, Vasant Kunj, New Delhi, India
,
Anu R. I.
2   Clinical Biochemistry, MVR Cancer Centre and Research Institute, Kerala, India
,
Padmaj Kulkarni
3   Medical Oncologist, Deenanath Mangeshkar Hospital, Pune, India
,
Amol Patel 
4   Department of Medicine, INHS, ASVINI, Mumbai, India
› Author Affiliations Source of Funding Nil.
The manuscript has been read and approved by all the authors, the requirements for authorship have been met, and each author believes that the manuscript represents honest work.
› Further Information
   Permissions and Reprints

Abstract

Introduction: Next-generation sequencing (NGS) has paved the way for precision oncology in oncology clinics today. With rapidly advancing therapeutics, it is becoming increasingly important to obtain information about the molecular milieu of a patient's tumor. However, reporting and interpreting of NGS is fraught with complexity and variability. To understand the questions surrounding NGS reporting in India, we conducted a survey.

Objectives: The aim of this study was to assess the gaps in NGS reporting and interpretation in Indian medical oncology clinics.

Materials and Methods: An anonymized 10-question survey-based study among Indian medical oncologists through Google forms was conducted between October 4 and 8, 2022.

Results: The sample size was n = 58. Seventy-one percent felt there was heterogeneity in NGS reporting, 72% were unaware of NGS reporting guidelines, and 62% did not feel the need for a molecular scientist assist in NGS interpretation. Almost all (98%) felt there was a need for uniform NGS reporting as well as an Indian NGS repository and data-sharing system (93%).

Conclusion: Our survey highlights the need for a uniform national guideline concerning NGS reporting.

Keywords

next-generation sequencing - uniform reporting - guidelines

Author Contribution:

Neha Pathak: intellectual content, literature search, manuscript preparation, manuscript writing, and manuscript review.


Anu R. I.: concept, design, intellectual content, data acquisition, data analysis, and statistical analysis.


Padmaj Kulkarni: design, manuscript editing, and manuscript review.


Amol Patel: concept, design, intellectual content, data acquisition, data analysis, statistical analysis, literature search, and manuscript review.




Publication History

Article published online:
05 July 2023

© 2023. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

Thieme Medical and Scientific Publishers Pvt. Ltd.
A-12, 2nd Floor, Sector 2, Noida-201301 UP, India

 

  • References

  • 1 Ginsburg GS, Phillips KA. Precision medicine: from science to value. Health Aff (Millwood) 2018; 37 (05) 694-701
    CrossrefPubMedGoogle Scholar
  • 2 Conway JR, Warner JL, Rubinstein WS, Miller RS. Next-generation sequencing and the clinical oncology workflow: data challenges, proposed solutions, and a call to action. JCO Precis Oncol 2019; 3 (03) 1-10
    CrossrefPubMedGoogle Scholar
  • 3 Seligson ND, Knepper TC, Ragg S, Walko CM. Developing drugs for tissue-agnostic indications: a paradigm shift in leveraging cancer biology for precision medicine. Clin Pharmacol Ther 2021; 109 (02) 334-342
    CrossrefPubMedGoogle Scholar
  • 4 Morganti S, Tarantino P, Ferraro E. et al. Complexity of genome sequencing and reporting: next generation sequencing (NGS) technologies and implementation of precision medicine in real life. Crit Rev Oncol Hematol 2019; 133: 171-182
    CrossrefPubMedGoogle Scholar
  • 5 Xuan J, Yu Y, Qing T, Guo L, Shi L. Next-generation sequencing in the clinic: promises and challenges. Cancer Lett 2013; 340 (02) 284-295
    CrossrefPubMedGoogle Scholar
  • 6 Weiss MM, Van der Zwaag B, Jongbloed JDH. et al. Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories. Hum Mutat 2013; 34 (10) 1313-1321
    CrossrefPubMedGoogle Scholar
  • 7 Hatanaka Y, Kuwata T, Morii E. et al. The Japanese Society of Pathology Practical Guidelines on the handling of pathological tissue samples for cancer genomic medicine. Pathol Int 2021; 71 (11) 725-740
    CrossrefPubMedGoogle Scholar
  • 8 Aziz N, Zhao Q, Bry L. et al. College of American Pathologists' laboratory standards for next-generation sequencing clinical tests. Arch Pathol Lab Med 2015; 139 (04) 481-493
    CrossrefPubMedGoogle Scholar
  • 9 Mosele F, Remon J, Mateo J. et al. Recommendations for the use of next-generation sequencing (NGS) for patients with metastatic cancers: a report from the ESMO Precision Medicine Working Group. Ann Oncol 2020; 31 (11) 1491-1505
    CrossrefPubMedGoogle Scholar
  • 10 Subbiah V, Wolf J, Konda B. et al. Tumour-agnostic efficacy and safety of selpercatinib in patients with RET fusion-positive solid tumours other than lung or thyroid tumours (LIBRETTO-001): a phase 1/2, open-label, basket trial. Lancet Oncol 2022; 23 (10) 1261-1273
    CrossrefPubMedGoogle Scholar
  • 11 Hendriks LE, Kerr KM, Menis J. et al; ESMO Guidelines Committee. Electronic address: clinicalguidelines@esmo.org. Oncogene-addicted metastatic non-small-cell lung cancer: ESMO Clinical Practice Guideline for diagnosis, treatment and follow-up. Ann Oncol 2023; 34 (04) 339-357
    CrossrefPubMedGoogle Scholar
  • 12 Esfahani K, Roudaia L, Buhlaiga N, Del Rincon SV, Papneja N, Miller Jr WH. A review of cancer immunotherapy: from the past, to the present, to the future. Curr Oncol 2020; 27 (Suppl. 02) S87-S97
    CrossrefPubMedGoogle Scholar
  • 13 Freedman AN, Klabunde CN, Wiant K. et al. Use of next-generation sequencing tests to guide cancer treatment: results from a nationally representative survey of oncologists in the United States. JCO Precis Oncol 2018; 2 (02) 1-13
    CrossrefPubMedGoogle Scholar
  • 14 Gray SW, Park ER, Najita J. et al. Oncologists' and cancer patients' views on whole-exome sequencing and incidental findings: results from the CanSeq study. Genet Med 2016; 18 (10) 1011-1019
    CrossrefPubMedGoogle Scholar
  • 15 Kennedy SR, Zhang Y, Risques RA. Cancer-associated mutations but no cancer: insights into the early steps of carcinogenesis and implications for early cancer detection. Trends Cancer 2019; 5 (09) 531-540
    CrossrefPubMedGoogle Scholar
  • 16 Mateo J, Chakravarty D, Dienstmann R. et al. A framework to rank genomic alterations as targets for cancer precision medicine: the ESMO Scale for Clinical Actionability of molecular Targets (ESCAT). Ann Oncol 2018; 29 (09) 1895-1902
    CrossrefPubMedGoogle Scholar
  • 17 Helmy M, Awad M, Mosa KA. Limited resources of genome sequencing in developing countries: challenges and solutions. Appl Transl Genomics 2016; 9: 15-19
    CrossrefPubMedGoogle Scholar
  • 18 George T, Baliga MS. Generic anticancer drugs of the Jan Aushadhi scheme in India and their branded counterparts: the first cost comparison study. Cureus 2021; 13 (11) e19231
    PubMedGoogle Scholar
  • 19 Bentley AR, Callier S, Rotimi CN. Diversity and inclusion in genomic research: why the uneven progress?. J Community Genet 2017; 8 (04) 255-266
    CrossrefPubMedGoogle Scholar
  • 20 Pemmasani SK, Raman R, Mohapatra R, Vidyasagar M, Acharya A. A review on the challenges in Indian genomics research for variant identification and interpretation. Front Genet 2020; 11: 753
    CrossrefPubMedGoogle Scholar