Genetics and Mutations Quiz

Precision Medicine and Oncology

• Precision medicine is a field focused on individualizing healthcare by using a patient's genetic makeup to predict their response to specific drugs or treatments.
• Cancer has specific pathophysiological hallmarks or characteristics that contribute to its development and progression.
• Oncologists apply precision medicine to tailor treatments based on the genetic profile of cancer patients, resulting in more effective and safer therapies.

Pharmacogenetics

• Pharmacogenetics is the use of genetic analysis to predict a person's response to medication based on their genetic makeup.
• This information can be used to tailor drug selection, dosage, or avoidance to improve efficacy and safety.
• Pharmacogenetics is currently used in drug discovery and development, as well as in prescribing personalized medications, based on an individual's genotype.

Genetic Testing Affordability

• The cost of sequencing a human genome has decreased significantly over time, making genetic testing increasingly affordable.
• This trend follows Moore's Law, with a steady reduction in cost.

100,000 Genomes Project

• The 100,000 Genomes Project is a large-scale genomic sequencing project in England focusing on cancer and other diseases.
• Over 70,000 patients and family members are involved in the project.
• The project generates vast amounts of data, including 21 petabytes of data.

Genetic Testing Availability

• Genetic testing is widely available and offered by commercial companies, alongside health and ancestry services.
• Tests are available online and in person, and may include reports detailing ancestry, health risks, carrier status, and other information.

Gene Mutations

• Gene mutations are changes in the specific sequence of a gene.
• These mutations can occur at any point in a cell's life, and are often caused by substances like viruses, cigarette smoke, alcohol and radiation exposure, as well as chemicals like asbestos and UV light.
• Not all mutations are heritable; those in germ cells are passed to offspring.

Personalized medicine vs Precision Medicine

• Personalised medicine is a broader concept that encompasses the use of any available information to improve a patient's care, whereas precision medicine is a subset of that in which genomic information is used.
• Precision medicine is a science-based approach that helps to provide more effective and safer treatments for patients.
• Thirty-eight per cent of patients with depression do not respond to the first antidepressant they are prescribed. Forty per cent of patients with asthma do not respond to the first bronchodilator.
• Types 2 diabetes (43%), arthritis (50%), and Alzheimer's disease patients (70%) do not respond to the most commonly prescribed drug.
• Each cancer is different and has unique characteristics. This makes it essential to use genetic and other biomarker data to predict an individual's risk of disease or to select the most effective and safest treatment for the individual.

BRCA1

• BRCA1 is a tumor suppressor gene that repairs double-strand DNA breaks.
• Mutations in BRCA1 increase the risk of breast and ovarian cancers.
• Genetic testing for BRCA1 mutations is important for diagnosis and treatment planning, particularly for women with a family history of these cancers.

EGFR

• EGFR is a receptor involved in cell growth and proliferation, and mutations in EGFR are frequently seen in lung cancer.
• The response to treatment can be affected by the presence of EGFR mutations in cancer patients.
• Gefitinib and erlotinib are EGFR inhibitors.

CDK 4/6

• CDK 4/6 is a key regulator of the cell cycle.
• Inhibition of CDK 4/6 can influence tumour growth and response to treatment in some cancer patients.
• Palbociclib is a CDK 4/6 inhibitor used in breast cancer treatment.

Cancer Vaccines

• Cancer vaccines use the body's immune system to fight cancer cells.
• mRNA vaccines use mRNA to produce tumor-specific antigens that stimulate the immune system, producing antibodies and T-cells.
• Newer treatments and approaches are often found for the identification of new targets.

Future Cancer Treatments

• Future cancer treatments will focus on individualized approaches for better treatment strategies.
• This approach incorporates genetic data and other factors into cancer treatment.

Economies of Scale

• Economies of scale is the concept that costs for a medicine or diagnostic change according to demand.
• The cost of a medicine will usually be higher with lower demand.
• More demand results in cheaper pricing for products, particularly for treatments and diagnostics.