Genomics

Why did the geneticist go to the mall? Their genes didn't fit... ba dum tss... sighh..

True or false:

Noncommunicable diseases, such as cancer, diabetes, CVD, and asthma, are based entirely on environmental/lifestyle factors.

FALSE.

Lifestyle plays large roles often times, but evidence has demonstrated how genetics impact susceptibility and risks

How can understanding genomics and the roles of genetics in patients impact the care the nurses/healthcare workers provide? SATA

• Implementation of early preventative measures

• Determining predispositions of patients

• Calculating how much patients will have to pay for care due to their increased acuity

• Develop and provide screenings in patients with family histories of certain diseases

• Determine how communicable diseases are passed between family members

• Implementation of early preventative measures

• Determining predispositions of patients

• Develop and provide screenings in patients with family histories of certain diseases

Genomics

• Helps determine the risk for noncommunicable diseases

• Study of genetic structures

• Plays a role in major noncommunicable diseases (cancer, diabetes, health disease, asthma, etc)

What is meant by noncommunicable diseases

• Diseases that aren’t communicable (lol)

• Basically, diseases that are caused not by a pathogen that can be transmitted

• Chronic conditions such as cancers, cystic fibrosis, etc

• BUT, also includes diseases that aren’t necessarily the results of genetic mutations - ex: heart diseases.

• Just keep in mind that genetics has an impact on risks for developing noncommunicable diseases, but isn’t the only cause of NCDs.

BRCA1 and BRCA2

• Tumor suppressor genes

• Mutations in BRCA1 or BRCA2 → Increase the risk for developing breast cancer!!!!

The gene is literally named after breast cancer. BReast CAncer → BRCA. Will help you remember.

How is BRCA screening used as a screening tool? 

• Identification of mutations in BRCA → Increased risk for breast cancer

• If positive → That means they got the mutation. Patient will be given the choice on actions to take to address their risk. 

  1. Prophylactic surgery = removal of both breasts

  2. No surgery, but make lifestyle changes = Avoid risk factors associated with breast cancer development.

Primary prevention w/ regards to genomics in public health

Ok so I couldn’t find perfect examples/information, but this is the best I got.

• Reducing exposure to risk factors for genetically linked diseases (lifestyle changes for patients at increased risk for diabetes, cancer, heart disease, etc)

  • Implementation of programs that Help do this — healthy cooking, exercise, etc

• Education and outreach — Inform public of risk factors, etc

• Addressing environmental hazards that can increase risk factors in those already at high risk (pollution for asthma risk, etc)

• Genetic counseling — reviewing personal and family history, receiving advice and consultation from healthcare professionals to understand their risks

  • Preconception — To help prevent the disease/congenital defects from happening in infants?

  • Can help people determine if they need to get genetic testing

Secondary prevention w/ regards to genomics in public health

Ok so I couldn’t find perfect examples/information, but this is the best I got.

• Genetic screening — Aid in early detection and possibly early treatments in children/adults

  • EX= BRCA screenings

• Prenatal diagnosis of infants for congenital conditions

  • Can aid in determining early interventions to reduce clinical manifestations/effects

Tertiary preventions for public health genomics

• The treatments themselves… yeah. 

  • Precision medicine — Tailoring medical treatments for patients based on genomics (I think this is right ☹ )