Sickle Cell Disease (SCD) (Potential Impact of Genetic and Genomic…
Sickle Cell Disease (SCD)
Description of Disease
"caused by a single-nucleotide polymorphism (point mutation) in both alleles of a single gene that results in the abnormal function of the beta chain of hemoglobin (beta globin)" (Beery & Workman, 2018, pg 212).
Transmitted in autosomal-recessive pattern from parent to child and is most common among people with African or other equatorial ancestry (Beery & Workman, 2018, pg 212).
RBCs bind to hemoglobin S causing the shape of globin molecules to fold differently because of the sensitivity hemoglobin S (HbS) has to low tissue levels of oxygen. This causes RBCs to take on a sickle shape and clump up easier/not flow smoothly through vessels. Furthermore, it leads to poor oxygenation to certain organs and parts of the body. (Beery & Workman, 2018, pg 212).
Signs & Symptoms
Conditions that lead to sickling include dehydration, infection, venous stasis, alcohol consumption, high altitude, low environmental or body temperature, acidosis, strenuous exercise, pregnancy, and anesthesia (Beery & Workman, 2018, pg 212).
blockage of blood flow can lead to hypoxic damage of tissues and organs, disability, and severe pain ('sickle cell crisis" periods), increased infections, chronic anemia, and early death (Beery & Workman, 2018, pg 212 & 215).
"80% to 90% HbS, and less than 40% in a person with sickle cell trait (Beery & Workman, 2018, pg 212).
Individuals expresses disease differently; severity varies.
Genetic and Genomic Assessment Considerations
prevent or reduce occurrence and progression
personal and family health histories,
level of risk,
patient informed of risk and how to manage it (Edwards & Maradiqieque, 2017, pg 41).
running genetic testing can lead to early diagnosis and prevention of diseases such as autoimmune diseases, cancer, cardiovascular disease, etc. and ultimately better health outcomes, more effective treatments (ANA, 2016, pg 5)
has lead to formation of new therapies for infectious diseases (ANA, 2016, pg 5)
couples are tested before pregnancy (prenatal screening) (Smith & Praetorius, 2015, pg 11)
may not have access to genetic testing
Potential Impact of Genetic and Genomic Information on Clients and Families
negative impact on an individual's and/or family's ethics and morals
can help prevent and diagnose diseases early on and lead to significantly better health outcomes
can cost a lot to do genetic testing, treatments, insurance, etc.
children and adolescents with SCD are more likely to be unsuccessful in school (Smith & Praetorius, 2015, pg 4)
additional struggle with depression, anxiety, and other mental health issues
could cause client and family to live their lives much differently once they know about the genetic condition
prenatal screening can lead to parents being better prepared to raise a child with SCD and be well educated about the disorder (Smith & Praetorius, 2015, pg 11)
Ethical and Legal Concerns
Respecting individuals' autonomy and supporting the client at all times (ANA, 2016, pg 4)
Being culturally aware as a nurse, sensitive to one's lifestyle, race, ethnicity, etc. (ANA, 2016, pg 4)
incidental and secondary findings that do not correspond with the initial reason for the genetic test (ANA, 2016, pg 5)
are certain treatment/prevention options legal in the U.S.? or country the client is in?
ethical controversies viewing genetic testing and treatment/prevention options
Scope of nursing practice anticipated in relation to genetic and genomic consideration for the chosen disease process
Serve as a support system for clients and families, are consultants to other health care team members, making evidence-based and informed decisions, health education/promotion, illness prevention, etc. (ANA, 2016 pg 3)
working in a team directly with other nurses, health professionals to carry out "a shared of helping individuals, families, communities, or populations reach their desired health outcomes" (ANA, 2016, pg 3)
working with and caring for people who are at risk for an inherited disorder/disease, couples at risk for having a child with a genetic condition, people who need interpretation of genetic findings, etc. (ANA, 2016, pg 2-3)
could be working in multiple different settings, hospitals, clinics, schools, research facilities, etc. when encountering genetic and genomic situations and genetic disorders
can specialize in genetics/genomics as a nurse or go into advanced practice and work in a variety of settings like oncology and specialty clinics (ANA, 2016 pg 7)