PGP Participant Survey
|
Responses submitted 7/16/2011 16:37:55.
Show responses
|
Timestamp |
7/16/2011 16:37:55 |
Year of birth |
50-59 years |
Which statement best describes you? |
I am comfortable making my genome sequence data publicly available without prior review. |
Severe disease or rare genetic trait |
Yes |
Do you have a severe genetic disease or rare genetic trait? If so, you can add a description for your public profile. |
hypercholesterolemia without significant cardiac impact |
Disease/trait: Onset |
20-29 years of age |
Disease/trait: Rarity |
Very rare/uncommon |
Disease/trait: Severity |
Moderate severity disease |
Disease/trait: Relative enrollment |
Maybe |
Disease/trait: Diagnosis |
Yes |
Disease/trait: Genetic confirmation |
No |
Disease/trait: Documentation |
Yes |
Disease/trait: Documentation description |
I am 55 years of age and have lab results for my cholesterol that go back to age 20 since I worked in a clinical lab. My total cholesterol and LDL levels are typically sky high - above 300 mg/dl. And my HDL levels are moderately low, below 50 mg/dl. Not conferring on me the numerical protection normally associated with high HDL levels. Despite this I have no apparent cardiac myopathy or artherosclerosis normally associated with such high levels. This means there are more cards in the cholesterol game than we currently understand. My high levels remain relatively untreated due to the fact that statin drugs give me instant tendonitis, also likely a genetic trait. |
Sex/Gender |
Male |
Race/ethnicity |
White |
Maternal grandmother: Country of origin |
United States |
Paternal grandmother: Country of origin |
United States |
Paternal grandfather: Country of origin |
United States |
Maternal grandfather: Country of origin |
United States |
Enrollment of relatives |
No |
Enrollment of older individuals |
Yes |
Enrollment of parents |
No |
Have you uploaded genetic data to your PGP participant profile? |
No, I have no genetic data. |
Have you used the PGP web interface to record a designated proxy? |
Yes |
Have you uploaded health record data using our Google Health or Microsoft Healthvault interfaces? |
Yes |
Uploaded health records: Update status |
Yes |
Uploaded health records: Extensiveness |
3 |
Blood sample |
Yes |
Saliva sample |
Yes |
Microbiome samples |
Yes |
Tissue samples from surgery |
Yes |
Tissue samples from autopsy |
Yes |