Related Experiment Video

Updated: Feb 1, 2026

Ultra-long Read Sequencing for Whole Genomic DNA Analysis
10:34

Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Published on: March 15, 2019

24.0K

Views from the clinic: Healthcare provider perspectives on whole genome sequencing in paediatrics

M J Szego1, M S Meyn2, C Shuman3

  • 1Joint Centre for Bioethics, University of Toronto, Toronto, Canada; St. Michael's Hospital, Toronto, Canada; Department of Family and Community Medicine, University of Toronto, Toronto, Canada; Dalla Lana School of Public Health, University of Toronto, Canada; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada.

European Journal of Medical Genetics
|December 4, 2018
PubMed

Insights

Whole genome sequencing (WGS) offers improved diagnostics, but practical challenges exist. Healthcare providers

Area of Science:

  • Genomics
  • Paediatric Medicine
  • Healthcare Delivery

Background:

  • Whole genome sequencing (WGS) is a powerful diagnostic tool with potential for personalized medicine.
  • Implementing WGS, especially in paediatrics, presents practical and ethical complexities.
  • Understanding healthcare providers' perspectives is crucial for successful WGS integration.

Purpose of the Study:

  • To explore healthcare providers' experiences and perceptions of WGS opportunities and challenges in a paediatric setting.
  • To identify factors influencing the adoption and implementation of WGS in paediatric care.

Main Methods:

  • Qualitative study involving semi-structured interviews with healthcare providers at a major Canadian paediatric academic health science centre.
  • Participants included 14 genetics professionals (geneticists, genetic counsellors) and 15 non-genetics professionals (sub-specialists, nurses).
  • Thematic analysis of interview transcripts to identify key themes and perspectives.

Main Results:

  • Genetics professionals demonstrated higher confidence in ordering genetic tests and providing counselling compared to non-genetics professionals.
  • WGS was generally supported when more specific tests were unavailable or unlikely to yield a diagnosis.
  • Concerns varied: genetics professionals cited time demands for variant review, while non-genetics professionals highlighted knowledge and training gaps. Reporting of secondary findings also raised ethical considerations.

Conclusions:

  • Healthcare providers' diverse perspectives on WGS, including practical and ethical considerations, are essential for guiding its implementation in paediatrics.
  • Addressing concerns related to time, knowledge, training, and secondary findings reporting is critical for successful WGS integration.
  • Further research and targeted educational initiatives can facilitate the effective and responsible use of WGS in paediatric healthcare.

Keywords:
Best interestsPaediatricsSecondary findingsWhole genome sequencing

More Related Videos

Novel Sequence Discovery by Subtractive Genomics09:40

Novel Sequence Discovery by Subtractive Genomics

Published on: January 25, 2019

9.1K
Genomic MRI - a Public Resource for Studying Sequence Patterns within Genomic DNA12:36

Genomic MRI - a Public Resource for Studying Sequence Patterns within Genomic DNA

Published on: May 9, 2011

10.6K

Related Concept Videos

Changes in Skin Color: Clinical Perspectives01:14

Changes in Skin Color: Clinical Perspectives

The first thing a clinician sees is the skin, so the examination of the skin should be part of any thorough physical examination. Most skin disorders are relatively benign, but a few, including melanomas, can be fatal if untreated. A couple of the more noticeable disorders, albinism and vitiligo, affect the appearance of the skin and its accessory organs.
Albinism
Albinism is a genetic disorder that affects (completely or partially) the coloring of skin, hair, and eyes. The defect is primarily...
3.5K
Genomics02:02

Genomics

Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
40.7K
Healthcare Agencies II01:17

Healthcare Agencies II

There are various healthcare agencies in the United States—some of which are managed by religious institutions and others by different government branches.
Parish nursing is a growing specialty nursing profession that focuses on holistic healthcare, health promotion, and illness prevention. It blends professional nursing practice with a health ministry, focusing on health and healing within the context of a Christian community. Parish nurses serve as health educators, referral sources,...
1.1K
Secondary Healthcare System01:11

Secondary Healthcare System

Secondary healthcare is offered by a specialist, generally in hospitals or clinics for patients referred by primary healthcare providers. It occurs when a person has an illness or injury that requires specific medical care. Secondary care is often referred to as acute care. Secondary care can range from uncomplicated care to repair a minor laceration or treat a strep throat infection to more complicated emergent care, such as treating a head injury sustained in an automobile accident. Whatever...
2.1K
Tertiary Healthcare System01:21

Tertiary Healthcare System

Specialized care provided over an extended period is called tertiary care. Usually, a primary or secondary care physician will refer a patient to tertiary care. A patient's maximum physical and mental function is restored in tertiary care, which is caused due to the impact of a chronic illness or condition. Tertiary care aims to achieve the highest level of functioning possible while managing chronic illness. For example, a patient who falls and fractures their hip will need secondary care...
2.2K
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
37.2K