[Genetic testing in patients with cancer; new developments]

Margreet G E M Ausems1,2, Jan C Oosterwijk3, Maartje Nielsen4

  • 1UMC Utrecht, afd. Genetica, div. Laboratoria, Apotheek en Biomedische Genetica, Utrecht.

Insights

Genetic testing for cancer can identify germline mutations, impacting patient treatment and family screening. This trend towards mainstreaming requires physicians to understand the implications of genetic testing for personalized cancer care.

Area of Science:

  • Oncology
  • Medical Genetics
  • Personalized Medicine

Background:

  • Approximately 5% of cancer patients harbor a causative germline mutation.
  • Germline mutations have significant implications for patient treatment, follow-up, and cascade screening of at-risk relatives.
  • Tumor DNA testing is increasingly used to identify actionable targets for personalized cancer therapy.

Purpose of the Study:

  • To discuss the implications of germline and tumor DNA testing in cancer patients.
  • To highlight the trend towards mainstreaming genetic testing in clinical practice.
  • To emphasize the need for physician awareness and collaboration in genetic testing.

Main Methods:

  • Review of current developments in cancer genetic testing.
  • Discussion of the impact of genetic testing on patient management and family members.
  • Analysis of the trend towards integrating genetic testing into routine clinical practice.

Main Results:

  • Germline mutations in 5% of cancer patients necessitate careful consideration for treatment and family screening.
  • Tumor testing aids in identifying personalized treatment strategies.
  • The mainstreaming of genetic testing requires enhanced physician education and interdisciplinary collaboration.

Conclusions:

  • Genetic testing, encompassing both germline and tumor analysis, is crucial for tailored cancer treatment and prevention.
  • Treating physicians must be equipped to manage the implications of genetic testing.
  • Effective collaboration between clinical genetics and treating physicians ensures optimal patient care and family risk assessment.

Related Concept Videos

What is Genetic Engineering?00:49

What is Genetic Engineering?

Overview
79.9K
Genetics of Speciation02:16

Genetics of Speciation

Speciation is the evolutionary process resulting in the formation of new, distinct species—groups of reproductively isolated populations.
21.0K
In Vitro Drug Release Testing: Overview, Development and Validation01:10

In Vitro Drug Release Testing: Overview, Development and Validation

In vitro dissolution and drug release tests assess how quickly and how much of a drug is released from its dosage form into an aqueous medium under standardized laboratory conditions. These tests are essential tools in pharmaceutical development and quality assurance, offering insight into the drug's performance before clinical use.During formulation development, dissolution testing identifies incomplete or inconsistent drug release issues. It also supports decisions on selecting the optimal...
324
What is Population Genetics?01:25

What is Population Genetics?

A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.
64.5K
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
9.0K
Types of Genetic Transfer Between Organisms02:18

Types of Genetic Transfer Between Organisms

Genetic transfer occurs when genetic information is passed from one organism to another. It occurs via two mechanisms: vertical gene transfer and horizontal gene transfer. Vertical gene transfer occurs when genetic information is transferred from one generation to the next, which happens much more frequently than horizontal gene transfer. Both sexual and asexual reproduction are forms of vertical gene transfer, where one or more organisms pass some or all of their genome onto their progeny.
30.6K