2.7.5 ClinVar
ClinVar was released in 2013 as a freely available resource that catalogs genome variation
of clinical importance, incorporating information on the genomic variants, the submitter,
the associated phenotype, the clinical interpretation, and the supporting evidence [49]. Terminology for variant interpretation follows the recommendations by the ACMG (reviewed
above). All data have been made available for use by researchers in multiple formats, and,
therefore, has become a valuable database for aggregating and consulting medically
important genome variation. Website: http://www.ncbi.nlm.nih.gov/clinvar/.
2.8
Opportunities, Challenges, and Perspectives
There is no doubt that genomics is already playing a large role in cancer diagnosis and
treatment, but it may become even more important in the near future. An ideal scenario to
treat a patient with cancer would be to have all possible information at hand before
treatment choice, which includes whole genome sequencing. In fact, the United Kingdom
through its National Health System is already setting up plans to whole-genome sequence
every child with cancer as well as sequencing a large part of their patient and healthy
population through the 100,000 Genomes Project [50] and the UK Biobank [51]. Similarly,
the United States under the Obama administration announced the Precision Medicine
Initiative in 2015, funding the National Health Institutes to form a cohort of a million
volunteers to provide genomic data and medical records, among others [52]. These
programs illustrate that policy-makers recognize the power that this technology can bring
to the clinic and are working already to make it a reality. People also recognize the benefits
that knowing their genome sequence can bring them, evidenced by the fact that the number
of humans around the world estimated to have been sequenced has dramatically increased
from one in 2003 to over 1.5 million in 2018 [53].
The promise of precision and personalized genomic medicine is exciting and potentially
life-changing, and it has already revolutionized the fields of rare disease diagnosis by
identifying causal mutations in a quarter of patients with a potential genetic condition [53]
and non-invasive prenatal testing by allowing rapid assessment of fetal chromosomal
aneuploidies [54]. The cancer field is no exception. As we have discussed throughout
this Chapter, genomic approaches have greatly advanced diagnosis via genetic testing for
at-risk families, disease monitoring via solid and liquid biopsy analysis and treatment
through the identification of therapeutic targets, and the development of immune therapies.
However, there are many challenges still to overcome in this field: To begin with, we only
know the consequences of a very small number of genetic alterations, out of all possible
aberrations, that may occur in a tumor. This means that even if we develop the technology
to detect them with high accuracy, we still may not know whether they play an important
role in disease development or are just passengers. To alleviate this, scientists are continuously working on identifying the characteristics of cancer drivers and testing potential
32
C. Molina-Aguilar et al.
ClinVar was released in 2013 as a freely available resource that catalogs genome variation
of clinical importance, incorporating information on the genomic variants, the submitter,
the associated phenotype, the clinical interpretation, and the supporting evidence [49]. Terminology for variant interpretation follows the recommendations by the ACMG (reviewed
above). All data have been made available for use by researchers in multiple formats, and,
therefore, has become a valuable database for aggregating and consulting medically
important genome variation. Website: http://www.ncbi.nlm.nih.gov/clinvar/.
2.8
Opportunities, Challenges, and Perspectives
There is no doubt that genomics is already playing a large role in cancer diagnosis and
treatment, but it may become even more important in the near future. An ideal scenario to
treat a patient with cancer would be to have all possible information at hand before
treatment choice, which includes whole genome sequencing. In fact, the United Kingdom
through its National Health System is already setting up plans to whole-genome sequence
every child with cancer as well as sequencing a large part of their patient and healthy
population through the 100,000 Genomes Project [50] and the UK Biobank [51]. Similarly,
the United States under the Obama administration announced the Precision Medicine
Initiative in 2015, funding the National Health Institutes to form a cohort of a million
volunteers to provide genomic data and medical records, among others [52]. These
programs illustrate that policy-makers recognize the power that this technology can bring
to the clinic and are working already to make it a reality. People also recognize the benefits
that knowing their genome sequence can bring them, evidenced by the fact that the number
of humans around the world estimated to have been sequenced has dramatically increased
from one in 2003 to over 1.5 million in 2018 [53].
The promise of precision and personalized genomic medicine is exciting and potentially
life-changing, and it has already revolutionized the fields of rare disease diagnosis by
identifying causal mutations in a quarter of patients with a potential genetic condition [53]
and non-invasive prenatal testing by allowing rapid assessment of fetal chromosomal
aneuploidies [54]. The cancer field is no exception. As we have discussed throughout
this Chapter, genomic approaches have greatly advanced diagnosis via genetic testing for
at-risk families, disease monitoring via solid and liquid biopsy analysis and treatment
through the identification of therapeutic targets, and the development of immune therapies.
However, there are many challenges still to overcome in this field: To begin with, we only
know the consequences of a very small number of genetic alterations, out of all possible
aberrations, that may occur in a tumor. This means that even if we develop the technology
to detect them with high accuracy, we still may not know whether they play an important
role in disease development or are just passengers. To alleviate this, scientists are continuously working on identifying the characteristics of cancer drivers and testing potential
32
C. Molina-Aguilar et al.