Genetic testing

Human genome project

october 1990-april 2023

Generated the 1st sequence of the human genome and info stored in databases →

1. accelerated study of human biology

2. improved practice of medicine

Genetic screening

use of specific assays to determine the genetic status of a person already suspected to be at increased risk for a certain inherited condition due to family history of clinical symptoms.

Genetic testing

use of various genetic tests to evaluate populations or groups of individuals independent of family history or clinical symptoms

Difference between genetic testing vs genetic screening

screen broad population regardless of family history whereas genetic testing is for individuals who are suspected to be at increased risk due to fam hx or symptoms to confirm/rule out inherited condition

Genetic counseling

communication process of the nature, burden, reproductive options and risk of recurrence of a specific inherited disorder. It includes empathetic counseling/support regarding the implications of the genetic information

• Offered to individuals and their family members when confronted w genetic and/or inherited disorders

main goal of genetic testing

promote well being of the patient

indications of genetic testing

(CBIFIDA)

1. Carrier of gene

2. Baby → detect genetic disorder before born

3. Identity testing

4. Forensic

5. Inheritability of carrier’s trait→ can the person who is a carrier for a gene pass it on

6. Diagnosis confirmation

7. Ancestry

what type of genetic testing: Confirmation of Cystic Fibrosis, Hemochromatosis

Diagnostic

what type of genetic testing: Identify your risk for certain types of colon cancer

Predictive

what type of genetic testing: neural tube defects, Down Syndrome, Trisomy 18 

prenatal

what type of genetic testing: embryos

pre-implantation

what type of genetic testing: PKU, sickle cell disease

Newborn

most common type of genetic testing

newborn

what type of genetic testing: Medications

Pharmacogenetics

what type of genetic testing: Tay-Sachs, Hemochromatosis

carrier or heterozygote

What are the 4 social, ethical and legal concerns regarding genetic testing?

Privacy

Autonomy

Confidentiality

Equity

(PACE)

T or F: genetic information involved just the individual whose DNA is being studied

F: involved family in addition to individual

Psycho-social concerns of genetic testing

1. Altered self image

2. Anxiety

3. Altered expectations of self or by others (education, employment, personal relationships)

4. Consequence of results → access, no tx options available

Benefits of genetic testing

1. Rule out specific condition

2. Definitive diagnosis

3. Individual’s risk for developing a disorder

4. Family’s risk for developing a disorder

(RDIF)

Limitations of genetic testing

Family tension

Limited information

Informed consent

Predictive testing

Privacy/Confidentiality

Equitable access

Discrimination

(FLIPPED)

Genetic information nondiscrimination act (GINA)

Federal law prevents health insurers and employers from discriminating based on individual’s genetic info

• Prevents canceling, denying, refusing to renew or changing terms based upon genetic predisposition toward a specific disease

• Prevents employers from using genetic information in hiring, firing, promotion and other employment-related decisions

Limitations of GINA law

1. Doesn’t apply to an employer with less than 15 employees

2. Doesn’t cover the US military and those receiving VA benefits

3. Doesn't protect against genetic discrimination in other insurances – life, disability, or long-term care

Purpose of genetic counseling

1. provide concrete and accurate info regarding the genetic disorder

2. educate regarding the genetic disorder and the process of inheritance

3. provide further options for testing fo specific genetic disorders

Belmont report’s 4 primary ethical principles for genetic research

1. Beneficence: acknowledge risks and benefits of research

2. Autonomy: ensure autonomous decision making for subjects

3. Justice: disseminating the results of research

4. Nonmaleficence: reducing harm/risk to subject

(Be A Just Nurse)

AAPA’s guidelines for genetic testing

1. only after proper informed consent is obtained

2. provide appropriate pre and post test counseling

3. ensure pt understants potential consequences

4. potential use of the information by insurance