NURS 5031 Study Guide: Genetics & Genomics

• Describe the most common classifications of genetic disorders.
• Mutation in 1 gene: autosomal dominant, recessive, or X-linked, relatively rare
• Ex: cystic fibrosis, sickle cell disease, polycystic kidney disease
• Mutations in multiple genes: multifactorial inheritance disorders, often related to environmental factors, variation in genes and environmental factors, can run in families, epigenetics
• Ex: heart disease, diabetes, most cancers
• Damage to chromosomes: changes in number or structure
• Ex: Down syndrome (trisomy 21), chronic myelocytic leukemia (translocation in 9 and 22)
• Explore the complex ethical and social implications of genetic testing - know the purpose, benefits, drawbacks, and limitations. 
• Genetic testing purpose:
• Diagnose your disease
• Pinpoint genetic factors that caused your disease
• Predict severity of disease
• Choose best medications and correct dose
• Discover genetic factors that increase your risk
• Find genetic factors that could be passed onto children
• Screen newborns for certain treatable decisions
• Benefits:
• Determines risk for developing disease (but also might not develop if risk is high)
• Drawbacks:
• Expensive, psychological stress, alter perception of identity, often provides inaccurate, incomplete, or misunderstood info
• Limitations:
• Legal and ethical issues:
• Patient data sharing (opt in vs opt out)
• Informed consent
• Identification of “de-identified” dataset
• Impacts insurance coverage
• Liability
• Explain what personalized medicine is and its goal.
• Personalized medicine: different medications and amounts for different people so that they can have the best response, focused on capturing diversity in responses
• Analyze the role of pharmacogenomics and pharmacogenetics in developing personalized drug therapy (big picture). 
• Pharmacogenetics: how variation in a single gene will influence a change in a specific drug
• Pharmacogenomics: how our entire genome can change our individual response to drugs
• Imprecision medicine: 1 approach for everyone, does not work because variability in response to drug is genetically linked
• Describe how mRNA vaccines work.
• mRNA is injected into the body and enters the cell
• Your own cells make the COVID-19 spike protein fragment (or other virus type) from the mRNA code in your own ribosomes
• Antigen presenting cells like macrophages pick up this scary spooky spike protein fragment and present it to your T cells so they can figure out an antibody to identify said fragment
• Now when your body encounters the real virus, your immune system can jump right into attack mode instead of wasting valuable time with the antigen identification and presentation steps of the immune response.
• Describe your role in assisting the patient and their family with genetic and genomic issues (e.g., referral for genetic testing - focus on diseases listed in the Genetics Jigsaw Google doc). 
• Cystic fibrosis:
• Be sensitive when discussing sexuality with young adults, delayed menstruation and secondary sex characteristics common
• Relief of bronchoconstriction, airway obstruction, and airflow limitation
• Help patient and family cope with complications
• Educate on good nutrition
• Huntington’s disease:
• Provide care and compassionate palliative support
• Be aware of possibility for depression and suicidal ideation
• Alternative methods of feeding as ability to feed oneself decreases
• Discuss long-term care plans with patient and family
• Meds for movement disorders
• Refer to psychiatric and dietary counseling
• Down syndrome:
• Speak to patient on appropriate developmental/intellectual level
• Provide education about Down syndrome and resources for support
• Refer to OT, PT, and speech therapy
• Marfan’s syndrome:
• Patient education on activity restriction and decreased mobility
• Pain management
• Possibly refer for aorta surgery
• Breast cancer:
• Be aware that it affects all people, treatment can alter identity, cultural awareness
• Full assessment and health history
• Education of options
• Post operative care
• Complementary/alternative therapies and psychosocial support
• Diabetes:
• Know differences between types
• Education, nutritional therapy, wound care, blood glucose testing, hypo/hyperglycemia signs and symptoms
• Hemophilia:
• Do not assume child abuse
• Injury prevention
• Medication education and administration
• Sickle cell disease:
• People with sickle cell are more likely to be accused of being drug seeking (frequent ED visits, increased tolerance to opioids)
• Pain control
• Monitor oxygen levels and administer as needed
• Education on infection and prevention
• Continuous assessment for ABCs