How long does it take to receive the results after a spit kit has been submitted?
Our current turnaround time is typically 4 months after we send the sample to the lab. It depends on the amount of incoming samples and outcome of the quality controls. In times of very high or very low volume, wait times will be longer. Currently, due to limited funding, we are experiencing low volumes - very low volume means we need to wait to collect the minimum number of samples to process the next batch.
What are the timelines for the different steps from being eligible for a spit kit to receiving results?
1) Receiving the spit kit: When you become eligible for a spit kit, we will mail it to you in the following two weeks. You can check the 'Spit Kit Status' on your Genes for Good app homepage at app.genesforgood.org. It can take up to two weeks to receive it.
2) When we receive it back from you, we enter the date when it returned to us. Sending it back to us can also take up to two weeks.
3) In the next step, we validate the form (name, signature, and date) and the saliva sample (amount), and forward the sample to the lab. You will see new information in your 'Spit Kit Status'.
4) The lab then extracts and genotypes the DNA. We will do many quality checks during this time to make sure that participants receive correct results. If there's not enough DNA in your saliva sample or if the results don't pass quality controls, we will contact you and send you another spit kit. Our current turnaround time for results is 4 months after we send the sample to the lab. You will receive an additional notification via email when your data is available to be viewed securely through the app and/or downloaded.
About the ancestry estimation, how much detail will you be providing?
We will provide three pieces of information:
1. Estimated percentage of your DNA from each of the 7 major world populations: Europe, Africa, East Asia, Central/South Asia, West Asia/North Africa, Americas, and Oceania. We may choose to round these percentages to 1/16ths or 1/32nds to reflect likely proportions of genetic ancestry and reduce noise in the estimates.
2. A plot of your chromosomes, showing the most likely ancestral population for each of your chromosomal segments.
3. A plot showing where the principal components of your genotypes fall relative to the 7 major world populations.
How do I download my raw data?
When your results are ready to be viewed we will notify you by email and attach a download link and 6-digit access code where you will be able to download your raw data.
On a laptop or desktop computer:
-Click on the download link in the email
-Enter your 6-digit access code in the 'Password' section
-The download should begin automatically
I deleted my Facebook, can I still get my results?
To view your pie chart and plots, you will need a Facebook account but you do not need one to download your raw genetic data. If this is the case, please contact us at firstname.lastname@example.org and let us know. From there we will be able to manually dispatch a new download link to you.
If you aren't able to access your data because you have deleted your Facebook account (the account you used when participated in Genes for Good) and created a new one, please feel free to contact us and let us know.
Why are my pie chart results so vague?
Currently our reference database is quite small, which is why our ancestry results are vague. We don't have enough data to predict ancestry down to the country, at least not accurately at the moment. As our database is growing we are working on adding more details to our results including more detailed ancestry.
How can I interpret these results?
Usually, participants download their raw genetic data and upload it to third-party sites or bring it to genetic counselors for interpretation.
Do I have the ability to select any data/results that I do not want shown - for example if I have Parkinson's Disease or risk for another disease?
We will not give you any information about the risk for a specific disease. Currently, we only have approval to show you:
(a) information about your ancestry
(b) your raw genetic data
Will there be a mechanism for those of us who volunteer to be kept abreast of findings, aggregate data analysis, trends, etc.?
We will update our publications page to keep you in the loop about analyses that have been completed using your data -- we hope that knowing how your information is being used will be reassuring and provide some motivation to stay engaged with the study. For research publications that are not open-access (i.e. available to the general public), please contact a study team member.
When I download my raw data, will it be compatible with Family Tree DNA, 23andMe, Ancestry.com, etc.? If not any of those platforms, what format will it be presented in?
We provide both your directly-assayed genotypes and imputed genotypes in "23andMe format." This means that we format your data the same way that 23andMe formats their files. The 23andMe format should be accepted at most third-party sites that accept 23andMe data. Please use caution when uploading your data to any third-party site, and contact us if you would like to discuss best practices and potential risks that may result from uploading your data to a third-party site.
Please note that certain companies like 23andMe and Ancestry.com do not accept uploads of raw data from other sources, regardless of formatting. Further, some third-party sites do not accept Genes for Good data due to the variants that overlap with their processing pipeline, again regardless of formatting. Please contact third-party sites directly if you are having trouble uploading data to their site.
We also provide your data in VCF format, a commonly used file format in genetics research.
Is it possible to upload my 23andMe or Ancestry.com data to Genes for Good?
We have discussed giving participants the option to share their genotypes from other services like Ancestry.com or 23andMe. This would actually save our costs considerably and allow us to recruit more individuals for genetic study. We have not done a lot of work on providing a secure way for participants to do this yet, but we would like to implement this in the future.
Is it possible to upload Whole Genome Sequencing (WGS) files in addition to 23andMe files? If yes, do you have preference for data formats?
We are curious about allowing this, and will have to figure out how to gauge how many people would be interested in donating / sharing their data in this way. In the short term, a VCF file seems appealing (a BAM/CRAM would provide the most long-term flexibility but might be cumbersome to transfer).
Do you also provide the haplogroup?
The Y and MT genotypes may have sufficient information to determine haplogroups but we have not looked into this yet. This is something that definitely needs more work. So probably not in the near future.
Can the results be mailed to my house or sent by email?
Unfortunately our review board does not allow us to send results by mail because they feel it is not secure for sharing results with participants. We also do not send hard copy results by mail as it would print out tens of thousands of pages. Ancestry results are instead returned to participants through the app, and Box for downloading your raw genetic data.
Is your lab CLIA certified?
No. Genes for Good is a research study and the technology and protocols we use are suitable for genetic research only, not for clinical genetic testing like you would receive at a hospital or doctor's office. Clinical genetic testing is held to higher standards and is done in laboratories, which are certified by governmental regulations called CLIA (Clinical Laboratory Improvement Amendments). If you use the Genes for Good data for diagnostic purposes, you should always have it confirmed by a real genetic test.
Do I have to pay for BOX?
While Box does offer paid accounts, you do not need to pay for an account (or even create a free account) in order to download your raw genetic data from Box. Once you click on your download link, you should be taken to a page that will allow you to enter a password (your 6-digit access code) and the download should being automatically.