Module 1: Prescribing, Dispensing, Selling and Compounding Drugs + Genetics

Question 1

What are the controlled acts for NP’s?

Answer 1

1. Communicating diagnosis
2. Performing a procedure below the dermis or mucous membrane
3. Putting an instrument, hand or finger beyond the: external ear canal, narrowing of nasal passages, larynx, opening of the urethra, labia majora, anal verge, artificial opening of the body
4. Application of energy
5. Casting or setting a fractured bone or dislocated joint
6. Ordering and administering an IM or inhalation medication
7. Prescribing, dispensing, selling or compounding a drug
8. Psychotherapy

Question 2

What is special about an NP compounding a medication versus dispensing?

Answer 2

Can only compound a medication that is prescribed by that person. Can only do this with creams or ointments.

Can dispense a prescription from other health care provider. Must be for a legitimate reason and documented.

Question 3

What are the 4 DNA bases?

Answer 3

1) cytosine
2) guanine
3) adenosine
4) thymine

Question 4

Tell me about chromosomes.

Answer 4

46 total, 23 pairs, 22 autosomes (22 numbered pairs), 1 sex chromosome pair (XY,XX)

Question 5

What does aneuploidy mean?

Answer 5

a condition where a person has an additional or missing chromosome (ex. down syndrome T21- 3 chromosomes)

Question 6

What does non-disjunction mean?

Answer 6

Failure of chromosomes to seperate properly during meiosis or mitosis, resulting in daughter cells with an abnormal number of chromosomes

Question 7

Talk about the genetics of down syndrome.

Answer 7

• 3 chromosomes for pair 21
• distinct facial features
• congenital heart defects can occur
• developmental delay
• hypotonia
• duodenal atresia
• increased risk of leukemia
• increased risk of early-onset alzheimer’s disease

Question 8

What is trisomy 18?

Answer 8

• profound global developmental delay
• congenital heart defects
• characteristic facial features
• failure to thrive
• hypertonia

Question 9

What is Trisomy 13?

Answer 9

• severe mental retardation
• growth retardation
• characteristic facial features
• multiple congenital anomalies (CHD, CNS malformations, cleft lip/palate, polydoctyly)

Question 10

What is Turner Syndrome?

Answer 10

• (45, X)
• short stature
• primary infertility/gonadal dysgenesis
• congenital anomalies (cardiac, renal)
• characteristic facial features
• normal intelligence

Question 11

What is Klinefelter Syndrome?

Answer 11

• (47, XXY)
• Tall stature
• gynecomastia (increased breast tissue)
• hypogonadism (female physical features)
• infertility
• learning difficulties

Question 12

What is 47, XYY?

Answer 12

• learning difficulties
• no dysmorphic features
• normal fertility
• behaviour issues (ADD, hyperactivity, impulsiveness)

Question 13

What is autosomal dominant inheritance?

Answer 13

• result from a mutation in one allele on a non-sex chromosome that results in a disease phenotype, regardless of the second, presumably normal, allele
• a way a genetic trait or condition can be passed down from a parent to a child
• one copy of a mutated gene from one parent can cause the genetic condition
• both sexes are equally affected by the disease
• the disease does not skip generations
• either parent can pass along the disease to a child of either sex
• a child who has a parent with the mutated gene has a 50% chance of inheriting the mutated gene
  Example: huntington’s disease, morfan syndrome, hypertrophic cardiomyopathy

Question 14

What is autosomal recessive inheritance?

Answer 14

• you inherit 2 mutated genes- one from each parent
• require two mutated alleles at a specified locus, as one alone can be compensated for by a normal allele
• passed on by 2 carriers (usually)
• as long as you have 1 good copy of the gene, you’ll be fine (everyone)
• affects males and females equally
• marriage between relatives is often present
• disease is seen in siblings, but usually not in their parents
• about 25% of offspring of two phenotypically normal carrier parents will have the disease.
• usually affect children earlier in life
  Ex: CF, sickle cell anemia, PKU, hereditary hemochromatosis

Question 15

What is the relationship between X and Y chromosomes and gene issues? X-Linked Inheritance?

Answer 15

Y chromosome- gene deficient, infertility issues with issues of Y
X chromosome- gene rich, if the gene issue is on X for men, they’re going to have the condition, “healthy women, boys with problems”
- X-linked dominant diseases are rare, X-linked recessive diseases are more common
- disease is never transmitted from father to son
- can see skipped generations, due to a series of carrier females passing along the mutated allele
- affected males will pass the allele to all daughters who become carriers
- carrier females will transmit the disease to 50% of their sons.
Example: duchenne muscular dystrophy, hemophilia

Question 16

What is variable vs. non-variable expressivity?

Answer 16

• variable: genetic mutations causing genetic diseased do not follow the same clinical course
• non-variable: if you get it, you’ll present the same way

Question 17

What is penetrance?

Answer 17

• how likely the gene will cause a problem when its not working properly
• some genes are highly penetrant and others aren’t penetrant at all
• incomplete penetrance (ex. 50%)
  Example: breast Ca, morphan’s syndrome
• complete examples: huntington’s disease

100% penetrance and variabile expressivity- different features of the disease in different members of the family

Question 18

Talk about the different methods of genetic testing.

Answer 18

Chromosome testing:

• Routine karyotype: old-fashioned, detects aneuploidy, large chromosome deletions/duplications, chromosome rearrangements (translocations)
• FISH (fluorescence in situ hybridization): submicroscopic deletions, detects aneuploidy
• Chromosomal microarray: even smaller submicroscopic deletions/duplications, aneuploidy
• Molecular Genetic Testing: analysis of DNA to detect heritable, disease-related gene mutations for clinical purposes, which include predicting risk of disease, identifying carriers and establishing prenatal or clinical diagnoses or prognoses
• Sequencing: GOLD STANDARD, determines the sequence of nucleotides in DNA, does not detect single larger deletions/duplications, detects single base pair changes and small deletions/duplications
• should never be a stand alone test, not all variants cause disease, even when found in disease genes

Question 19

Talk about genetic testing in obstetrics/prenatal care.

Answer 19

• multiple marker screening (MSS, IPS, FTS)
• U/S and biochemical markers
• risk assessment for: down syndrome, trisomy 13/18, open neural tube defects, etc.
• 1:200 risk is considered a positive screening

Amiocentesis:
- 15-18 weeks, small risk of miscarriage (0.5%), detects chromosome anomalies, single gene disorders, open neural tube defects

Chorionic villus sampling (CVS):
- 11-13 weeks, sampling of placenta for fetal genetic material, 1% risk of miscarriage, detects chromosome anomalies, single gene disorders

Question 20

What is NIPI?

Answer 20

Non-invasive prenatal testing:

• 98% certainty
• detects presence of fetal aneuploidy (trisomy 13/18/21)
• Available for: older mothers, other children with genetic diseases, or at a cost
• sex chromosome aneuploidy from maternal blood sample
• not diagnostic

Question 21

What does an U/S add to genetic testing in obstetrics/prenatal care?

Answer 21

• identifies “soft markers” for chromosome anomalies
• identify fetal anomalies (cardiac, renal)
• assess risk for underlying genetic syndrome

Question 22

Talk about newborn screening.

Answer 22

• screening for 29 genetic diseases (ex. PKU, hypothyroidism, CF)
• not diagnostic
• positive screening will lead to genetic DNA testing

Question 23

What components are involved in a genetic disorders diagnosis?

Answer 23

• family history assessment
• clinical examination, medical hx
• biochemical marker testing
• genetic testing
• genetic counselling

Question 24

What is a karyotype?

Answer 24

• A karyotype depicts the number and appearance of all chromosomes that are found within the nucleus of a cell
• All of the diploid cells within one organism will contain the same karyotype
• 46 chromosomes: 22 pairs of autosomal chromosomes and one pair of sex chromosomes
• A typical human female’s karyotype would be known as 46, XX to denote all 23 pairs of chromosomes including the XX sex chromosomes
• A typical male’s karyotype would be known as 46, XY to denote all 23 pairs of chromosomes including the XY sex chromosomes

An example of a karyotype: Turner syndrome has a mutation that can be recognized in its karyotype. It is a condition that affects women who are partially or completely missing an X chromosome, so the majority of cases have the karyotype 45, X

Question 25

What is a genotype?

Answer 25

• A genotype is the genetic code of an organism’s cells, and the genetic code is based on the combination of alleles that it inherits from its reproductive cells, known as its gametes
• If the organism inherits two copies of the same allele, it is homozygous. The organism can inherit two recessive alleles, which is known as homozygous recessive, or two dominant alleles, which is known as homozygous dominant
• If the organism inherits two different alleles, a recessive and a dominant, the genotype is heterozygous

An example of a genotype: determining a person’s ABO genotype, or their blood type. Individuals may inherit one of three alleles from each of their parents: A, B, and O. From these alleles, there are six different possible genotypes: OO, AO, AA, AB, BO, and BB. An example of a homozygous dominant genotype would be AA while an example of a heterozygous genotype would be AO.

Question 26

What is a phenotype?

Answer 26

• The physical expression of an organism’s genotype, determined by the physical attributes that are observed in an organism
• Not only related to an organism’s genetic makeup, but is also related to external factors such as the environment that surrounds the organism

An example of a phenotype: an individual may inherit brown hair due to their genotype, so the physical expression (phenotype) of the hair will appear brown. However, non-genetic factors such as age, chemical dyes, or sun damage can change the appearance of one’s hair colour.
- sun damage of skin and its appearance vs. genetic predisposition

Question 27

What is polygenic inheritance?

Answer 27

• when a genetic trait is expressed due to the interaction of multiple genes, such as skin colour or height
• demonstrated by the fact that there are a multitude of possible heights that someone can have depending on the inherited genes and how they interact together
• the more genes involved in the expression of a trait, the greater the number of possible phenotypes

Question 28

What is multifactorial inheritance?

Answer 28

• form of polygenic inheritance where the effect of environmental factors may interact with genetic expression, and therefore change the phenotype

For example, an individuals final height is dictated by additive effects of a multitude of genes, however if as a child they experience malnourishment, then the child may never reach the height that their genes coded for

It is believed that many disease processes, such as diabetes, heart disease and cancer are due to multifactorial inheritance. The chance of someone experiencing these diseases is determined by certain genes, but also the environmental triggers include diet, exercise, polluted air, age, access to healthcare, and any other non-genetic factors