Lec 12: Genomics

what is genomics

study of genes, genetic variants, and their interactions with a persons environment

• explore their influence on health/development

what does a human gene consist of

DNA, several chromosomes

genetics def

identification of variations in single genes that cause conditions, how they pass on to next generation

Genetic variant def

permanent change in DNA sequence

Genomic literacy def

ability to understand/use genomic info to make health related decisions

Precision Health Care def

takes into account persons genome to tailor their healthcare

what are all the different types of genetic testing

• molecular genetic testing

• biochemical genetic testing

• direct to consumer testing

• whole genome testing

molecular genetic testing

look for changes or mutations in genes (in one gene or many aka panel tests)

• most common

Biochemical genetic tests

looks at the structure and amount of proteins/enzymes in cells

Direct to consumer testing

test done by person themselves with kit sent in mail

• may not be able to get counselling afterward

Whole genome testing

generally only available outside of healthcare system, have to pay for it yourself

• ex paternity, ancestry, risk of cancers/diseases

Pharmacogenomics def

study of how genes affect persons response to drugs

• helps develop effective, safe meds prescribed based on genetic makeup

• optimizes drug therapy, no side effects

Pharmacogenomics and Drug Trials

• therapy with cytochrome CYP 450 group help metabolize drugs

• use of TPMT

• targeted cell therapy

• stem cell transplant therapy

TPMT

enzyme that helps with chemotherapy, breaks down thiopurines

what does prenatal screening help tell us

• if baby has chance of down/edwards syndrome

• possibility of genetic/health conditions

• gene modifying tx possible to prevent conditions

• allows decisions about IVF

why do we do genetic screening for infants and kids

slow down development of cancers/rare metabolic syndromes

• managing hereditary diseases

• may indicate child has a condition where gene therapy might improve quality of life

what are some of examples of Adult Genetic Testing

• screening for breast/cervical cancer in women (21-65 yrs)

• screening for prostate/colorectal cancer in men (50-75 yrs) or earlier, depending on family history

• screening for dementia for people with family hx

Postmortem Genetic Testing

goal is to determine cause of death and identify if family at risk for genetic disorders/sudden death

what are all the diff roles nurses play in genomics

• referring for genetic counselling

• advocacy/policy development

• navigator

• researchers

• care providers

• ethical recommendations

• addressing dilemmas

• pt/family education

• prevention

• collaboration

how does genomics help nurses

helps ability to identify genetic risk factors/mutations that cause chronic and fatal illnesses

SIGNIFICANCE OF GENOMICS IN HEALTHCARE

• helps in early identification/tx, prevention

• education of pts

• allows more personalized, proactive, and equitable care for everyone

GENOMICS AND ETHICS, what to keep in mind

1. ethical consideration for pts/families

2. privacy/confidentiality

3. respect pts decision

4. be culturally respectful of their choices

5. nurses must vent feelings=no burnout

what are some examples of ethical issues nurses may face regarding genomics

• abortion

• IVF

• fear of genetic diseases

• designer babies

Ethical Issues and Genomics for clients/families

• autonomy (informed decision making)

• privacy protecting sensitive genetic info

• psychological impact=anxiety about results or risks

Ethical Issues and Genomics For Healthcare Professionals:

• equity=avoiding discrimination based on genetics

• consent=ensuring pts understand implications

• cultural sensitivity=respecting diverse beliefs about genetics

Ethical Issues and Genomics, broader issues

• insurance discrimination ex genetic predisposition

• ownership of genetic data ex in research

CHALLENGES OF GENOMICS IN NURSING

• still in early stages

• financial challenges

• lack of awareness among nurses at curriculum/practice level

• lack of public knowledge/awareness of genetic study

• ethical dilemmas

• lack of time and resources for appropriate training

• coordination/collaboration with an interdisciplinary team