Pharmacogenomics for Prader-Willi syndrome: caregiver interest and planned utilization

Figures & data

Table 1. Caregiver demographics (n = 48).

Variable	n	%
Caregiver role
Biological or adopted mother	41	85.4
Biological or adopted father	6	12.5
Other relative	1	2.1
Biological sex
Female	41	85.4
Male	7	14.6
Age
30–39 years	3	6.3
40–49 years	8	16.7
50–59 years	22	45.8
60 years or older	15	31.3
Race ^†
White	46	95.8
I prefer not to say	2	4.2
Ethnicity ^†
Not Hispanic or Latino	45	93.8
Hispanic or Latino	1	2.1
I prefer not to say	2	4.2
Highest level of education
High school graduate or equivalent (GED)	4	8.3
Some college, no degree	6	12.5
Associate degree	4	8.3
Bachelor’s degree	13	27.1
Graduate or professional degree	21	43.8

† Totals may not add up to 100% due to select all that apply responses.

GED: General educational development.

Table 2. Individuals with Prader-Willi syndrome demographics (n = 47).

Variable	n	%
Genetic subtype
Paternal deletion	26	55.3
Maternal UPD	17	36.2
Imprinting defect	2	4.3
Unknown	2	4.3
Biological sex
Female	26	55.3
Male	21	44.7
Age
10–18 years	27	57.4
19–30 years	12	25.5
31 years or older	8	17.0
Number of drugs taken ^†
0	1	2.1
1–3	9	19.1
4–6	12	25.5
7–9	17	36.2
10 or more	8	17.0

† Includes prescription, over the counter medications and supplements.

UPD: Uniparental disomy.

Table 3. Caregiver interest in drug type recommendations included on pharmacogenomics report (n = 48).

Drug type	n	%^†
Behavior drugs (anxiety, temper outbursts, ADHD, OCD behaviors, aggression, etc.)	43	89.6
Hormone replacement drugs (growth hormone, sex hormone)	37	77.1
Sleep disturbances treatment drugs	26	54.2
Hypothyroidism drugs	20	41.7
Control of blood glucose drugs (insulin, metformin, etc.)	17	35.4
Drugs not directly related to PWS treatment (e.g., blood clotting, chemotherapy, etc.)	13	27.1

† Totals may not add up to 100% due to select all that apply responses.

PGx: Pharmacogenomics; ADHD: Attention-deficit/hyperactivity disorder; OCD: Obsessive compulsive disorder; PWS: Prader-Willi syndrome.

Figure 1. Sources from which caregivers heard about pharmacogenomics testing (n = 29)^†.

^†Caregivers were allowed to select all that apply from the choices above therefore totals may not add up to 100%.

^‡’Other’ responses include in exact quotes (1) ’teach science’ (1) ’work in pharmaceutical industry’ (1) ’G[enetic] C[ounselor] when going for breast cancer’ (1) ’had CYP450 test 15 years ago’.

PWS: Prader-Willi syndrome.

Table 4. Most valuable outcome from pharmacogenomics testing (n = 48).

Choice	n = 48	%
Increasing the effectiveness of the drugs my child takes or may take	23	47.9
Decreasing the trial and error in prescribing my child’s drug(s)	15	31.3
Increasing my confidence in my child trying a new drug	8	16.7
Decreasing the side effects of the drugs my child takes or may take	2	4.2
Decreasing the cost of the drugs my child takes or may take	0	0.0

Figure 2. Healthcare providers.

Caregivers indicated on a Likert scale which healthcare providers they would likely share their child’s pharmacogenomics report.

Figure 3. Caregiver comfort and confidence levels discussing and utilizing pharmacogenomics reports with their child’s healthcare providers (n = 48).

PGx: Pharmacogenomics.