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Page 42 Loong et al. J Transl Genet Genom 2023;7:27-49 https://dx.doi.org/10.20517/jtgg.2022.20

as determining the length of time before a subsequent follow-up visit. Notably, VUS in this group of
patients is subject to later reinterpretation, when the variant may become reclassified as pathogenic/likely
pathogenic or benign/likely benign when new evidence appears. New research may also find that other
[6]
genes are implicated in the disease condition, prompting a re-evaluation of the patient’s genotype status .
The latter highlights our preference for WES/WGS over panel sequencing .
[124]

ESSENTIAL CONSIDERATIONS FOR AN ICC CLINIC
Resource considerations in the establishment of a cardiovascular genetics program
Significant resources are required to establish a cardiovascular genetics program. In addition to the
recruitment and training of a multidisciplinary team to fill the roles of cardiologists, genetic counselors,
bioinformaticians, and nurse coordinators, among others, there are pertinent requirements that must be
addressed for the long-term success of an ICC program. Some examples include sufficient computational
power to analyze genomic information, ample database space to store genomic datasets, and a clinical and
scientific framework that begins from patient recruitment and continues to cascade testing and case
management. An alternative option is to outsource the process of DNA sequencing, variant-calling,
annotation, and curation to an external commercial entity.

Training and education are critical for an ICC program. These include multidisciplinary meetings to ensure
that team members are up-to-date with the latest guidelines and cases, journal clubs to facilitate knowledge
expansion, and educational materials. Many cardiologists receive variable and often insufficient training in
ICC and genomic medicine. There is also a shortage of genetic specialists, especially in less-developed
jurisdictions, complicating the training in this area (8). On a positive note, the increased interest in ICCs
among cardiovascular clinicians might lead to an increase in clinicians familiar with ICC diagnosis and
management [135,136] .

Informed consent
Bioethical considerations are essential in the practice of genomic medicine. Valid consent for genetic testing
must be obtained from the patient/parent or guardian for underaged patients. They must be adequately
informed regarding the details, risks, benefits, and alternatives. Consent must be voluntary and obtained by
someone competent, such as a physician with relevant clinical genomics knowledge or a trained genetic
counselor [131,137] . This may present challenges in less-developed countries with limited access to resources
such as healthcare and education. The basis of genomics may confuse the layperson due to its highly
[138]
scientific nature . In addition to traditional beliefs and cost considerations, such knowledge gaps are
barriers to collecting informed consent and patient’s willingness to undergo such tests . The healthcare
[131]
professional must be able to communicate the various implications of undergoing a genetic test, including
its indications, risks, benefits, and alternatives, to ensure patient autonomy, reflecting the informed consent
[138]
procedure . Efforts such as providing comprehensive educational materials explaining the process help
bridge the knowledge gap for patients and their families. In addition, a healthcare provider must be aware of
hurdles involving the genetic testing of minors [131,138] . The provider should seek the informed consent of the
minor patient’s parents (or guardian) and engage the patient in decision-making at a developmentally
appropriate level, keeping with ethics guidance [131,139] .

Provision of genomic services in Singapore
To ensure a responsible and comprehensive provision of clinical genetic testing, the Singapore Ministry of
Health (MOH) has released a code of practice on the standards for the provision of clinical genetic and
clinical laboratory genetic services. This code outlines the requirements for healthcare providers before
offering genetic testing services, considering factors such as the competency levels of practitioners, types of
genetic services, and clinical indications of such tests. It provides guidelines to ensure that a fully-trained