Debbie Cruwys Kennett on The Big Y results

Posted today by Debbie Cruwys Kennett is an analysis of early results from the Big Y test at Family Tree DNA (FTDNA):

http://cruwys.blogspot.co.uk/2014/03/the-big-y-roll-out-snp-tsunami-is-on.html

Big Y results starting to come out at FTDNA

At the FTDNA Administrators Conference FTDNA announced the Big Y test. This test sequences the Y Chromosome and returns millions of results. As others have written, it will greatly increase the definition of the Y Tree. Results were expected in December 2013, then a series of delays occured and 28 Feb was announced as the release date. As it happened, only 100 results were released on 28 Feb. Other results will be released over the next month. This has caused a number of people to complain that FTDNA has been cavalier in it's treatment of customers with unrealistic release dates. Today FTDNA sent out the following email:

Dear Valued Customer,


Yesterday, February 27th, we began releasing results for the Big Y orders. We have received some incredibly positive feedback and this is much appreciated.

We are also hearing the frustrations from those who have not yet received their results, and we would like to address the matter publicly in the form of a sincere apology. The entire FTDNA team has been working very hard over the last few months with high determination and many late nights. Launching a new product is always a challenge with many moving parts, some more predictable than others. Unfortunately we ran into some surprises beyond our control when one of our suppliers ran out of certain reagents we needed for running the Big Y product. However we recognize that it is our responsibility and duty to meet our deadlines and keep our customers informed when problems arise.

With the Big Y launch, we failed to properly manage the expectations of our customers. This was an honest oversight, in which we internally had a target to release first results in February, but we didn’t pay close attention to the dates being communicated on the status pages for those orders. Big Y was a new product and the status entries were updated automatically. We should have manually adjusted these dates earlier on as needed. So while we were thrilled to release the first results in February, we failed to realize that everyone expected results this week. I personally take responsibility for this miscommunication and mishap with the website delivery dates and hope you accept my sincere apologies.

I am well aware that as a company we have a bit of a history in missing deadlines. A big contributor to that is that we have typically been very ambitious in taking on difficult projects while still wanting to deliver information quickly to customers. The Big Y product is a great example. It was a cutting-edge project that pushed us deep into next-generation sequencing and advanced data analysis. Our ambitious, risk-taking attitude has won many of you over and delivered incredible thought leadership and leading products over the years. Unfortunately, our poor estimates and turnaround time expectations have frustrated many of you along the way as well. We are committed to continuing to be the company that is willing to push the envelope and take risks to bring you the best in genetic genealogy, but moving forward we will strive to be more careful in setting accurate time expectations.

Again, we are sincerely sorry for any frustration we caused with the delays and miscommunication of turnaround time. We are very proud of our achievements with the Big Y and feel confident about the high quality product we are delivering! We hope you will let the wonderful product we produced make up for delays that were needed to refine it! We have updated expected results dates on customer pages and will work around the clock to beat them.

Regards,

Nir Leibovich
Chief Business Officer
www.FamilyTreeDna.com
Gene by Gene Ltd.

Thanks to Tim Jansen, M.D. for the notice.

Good article on using DNA testing to find birth parents

This is an article on Kasandra Rose, an adoptee and a biologist, who has been using autosomal DNA testing to determine her ancestry and to hopefully find her parents:

http://www.freep.com/article/20140223/COL26/302230078/DNA-testing-adoption-finding-family

The side panel contains some useful information for other adoptees. Kasandra has a blog at The Rose Bush

International Genetic Genealogy Conference: 15-17 August 2014

The Institute for Genetic Genealogy will hold the International Genetic Genealogy Conference in August. Details on the Conference with a list of speakers, can be found on the Conference website. This should be a very informative meeting. This blogger will be attending.

Multiple cousins shown at AncestryDNA (UPDATE)

The problem reported below has been corrected.If you have multiple connections to a cousin, the separate connections are now correctly marked for the degree of relationship.

Like numerous others I received two additional pages of Hints today at AncestryDNA. In examining the matches I have found that AncestryDNA is now showing all multiple matches at the furthest degree of relationship. As an example I have one person who is a 3rd cousin once removed and a 6th cousin on another line. When I open the match each is shown as a 6th cousin even though there are two different lines of relationship.

There were two 3rd cousins in my predicted 4th to 6th cousin Hinted match list.

I have started using the Note section to tag the match with the person's name, the degree of relationship and the name of the person or couple the relationship is from.

I now have 5 pages of Hints out of 182 pages of matches. Needless to say, I'll never get through looking at all of those pages of matches.

FTDNA DNA sale ends 31 Dec 2013.

Use this link to Order:

http://www.familytreedna.com/holiday-sale.aspx?

Dear Project Administrator,

Thank you for another outstanding year of discovery at Family Tree DNA.
As you may know, our end-of-the-year prices for new kit orders and
upgrades is ending December 31, 2013.

Order and pay today before the sale ends!

Paternal Lineage Orders:

New Kits

Product  Regular Price  Sale Price   
Y-DNA37  $169 US $119 US Order
Y-DNA67  $268 US $189 US Order
Y-DNA111 $359 US $289 US Order

Upgrades

Product  Regular Price  Sale Price
refine 12-37  $109 US $69 US
refine 12-67  $199 US $148 US
refine 25-37  $59 US         $35 US
refine 25-67  $159 US $114 US
refine 37-67  $109 US $79 US
refine 37-111  $220 US $188 US
refine 67-111  $129 US $109 US
Login and Upgrade

Universal Lineage Orders

Family Finder

Get a $100 Restaurant.com gift card with every Family Finder order 
in the United States!

Product  Regular Price  Sale Price   
Family Finder  $99 US $99* US Order
Discover New Matches with Family Finder Transfer

Transfer your 23andMe© or AncestryDNA™ today for the best Family Finder 
analysis and the most useful tools. Learn more...

Product              Regular Price  Sale Price   
Autosomal transfer  $69 US          $49 US Order

Maternal Lineage Orders


New Kits

Product  Regular Price  Sale Price   
mtFullSequence  $199 US $169 US Order
Upgrades

Product        Regular Price  Sale Price
mtHVR1toMega  $169 US $149 US
mtHVR2toMega  $159 US $139 US
mtFullSequence 
Add On          $199 US $169 US
Login and Upgrade

Combination Tests

Achieve multiple testing goals with combined testing packages.

For men only:

Product               Regular Price Sale Price   
Family Finder + Y-DNA37  $268 US $218* US Order
Family Finder + Y-DNA67  $367 US $288* US Order
Y-DNA37 + mtFullSequence $368 US $288 US         Order
Y-DNA67 + mtFullSequence $467 US $358 US         Order
Comprehensive          $566 US        $457* US Order
 * Get a $100 Restaurant.com gift card with every Family Finder order 
in the United States!

For men and women:

Product                     Regular Price  Sale Price   
Family Finder + mtFullSequence  $298 US $268* US Order
 * Get a $100 Restaurant.com gift card with every Family Finder order 
in the United States!

Orders must be placed and paid for by December 31, 2013 to receive this offer.

IMPORTANT: We encourage you to spread the word starting now as the natural
tendency is for people to order at the last minute. This promotion will run
through the end of December and we will not be extending it beyond
December 31, 2013.

No health results for 23andme kits purchased on 22 Nov 2013 or later

Here is the new landing page at 23andme as of today, 5 Dec 2013:

Welcome to 23andMe.

At this time, we have suspended our health-related genetic tests to comply immediately with the U.S. Food and Drug Administration’s directive to discontinue new consumer access during our regulatory review process.

We are continuing to provide you with both ancestry-related genetic tests and raw genetic data, without 23andMe’s interpretation.

If you are an existing customer please click the link below and then go to the health page for additional information. If you are a customer that purchased before 11/22/13, you will still have access to your health-related results.

We remain firmly committed to fulfilling our long-term mission to help people everywhere have access to their own genetic data and have the ability to use that information to improve their lives.

Upon entering the site, please confirm you understand the new changes in our services.

I understand that 23andMe only sells ancestry reports and raw genetic data at this time. I understand 23andMe will not provide health-related reports. However, 23andMe may provide health-related results in the future, dependent upon FDA marketing authorization.

Clicking on I Understand will take you to the normal login page.

FAQ entries with additional information:

https://23andme.zendesk.com/entries/23273619-FDA-Update-December-5th

FDA Update: December 5th


23andMe
posted this on Dec 05 06:16 PM

Here is the latest update regarding the FDA letter and how it will impact our service.
At this time, we have suspended our health-related genetic tests to comply immediately with the U.S. Food and Drug Administration’s directive to discontinue new consumer access during our regulatory review process.

Is 23andMe still selling its Personal Genome Service?

Yes. 23andMe’s Personal Genome Service including ancestry information and access to raw genetic data without interpretation is still available. Some health-related results may become available in the future, dependent upon FDA marketing authorization.

Which reports are impacted?

All health-related results including health risks, drug response, inherited conditions and traits.
23andMe will continue our education efforts and research using our database of genetic and phenotypic data.
Customers will continue to have access to their raw data.

Which customers are impacted?

All customers who purchased prior to November 22, 2013 will have access to their health-related genetic results.
Customers who purchased on November 22, 2013 or later will not have access to health-related results. Some health-related results may become available in the future, dependent upon FDA marketing authorization.
Customers who purchased on or after November 22, 2013 will be eligible for a full refund. Eligible customers will receive an email with personalized instructions on how to elect a full refund.

I currently have access to my health data – will that information be removed from my account?

No. Existing customers will continue to have access to their health-related results.

My sample is currently at the lab for processing, will I get health data?

Access to health data is based on your purchase date. If you purchased 23andMe prior to November 22, 2013, you will receive health data.
If you purchased a 23andMe kit on or after November 22, 2013, we will not be able to provide health-related results at this time. Some health-related results may become available in the future, dependent upon FDA marketing authorization.

I purchased a kit as a gift before November 22nd, but have not given it to the recipient. Will they still receive health results when they send it in?

Yes. Access to health-related results is based on the purchase date of the kit. Any kit purchased before November 22, 2013 and returned to our lab will receive health-related results.

I purchased a kit as a gift after November 22nd, but have not given it to the recipient. Will they still receive health results? Can I get a refund?

Access to health-related results is based on the purchase date of the kit. For any kit purchased after November 22, 2013, we will not be able to provide health-related results. If you are eligible, you will receive an email with personalized instructions for claiming the refund.

Will the company continue to provide new health reports to international customers?

No. At this time 23andMe is not going to provide new health-related results to any customers who purchased on or after November 22, 2013.

Which health reports will be available in the future? Do you have any sense of when health-related results may become available again?

We can’t speculate on the timing or outcome of the regulatory review process, but are committed to working with the FDA.

Will refunds be offered?

Yes, customers who purchased on or after November 22, 2013 will receive an email with instructions on how to elect a full refund.
Due to the volume of impacted customers, it may take a few weeks for refunds to be processed. We appreciate your patience.
Eligible customers who do not receive an email with refund instructions are encouraged to double-check their spam email folders. Alternatively, they can contact Customer Care: https://23andme.zendesk.com/entries/23796730-Requesting-a-refund

If I purchase a kit with just ancestry-related results and raw data, is the price still $99?

Yes. The price remains unchanged at $99.

How accurate is 23andMe’s data?

We adhere to the highest scientific standards and the same laboratory processing standards currently applied to physician-ordered tests.
Our testing has shown a greater than 99.9 percent accuracy rate.
Our lab follows strict quality standards that are part of the Clinical Laboratory Improvement Amendments of 1988 — known as CLIA. These are the same standards used in specific health and disease-related testing. We decided several years ago to comply with CLIA guidelines to be consistent with other types of laboratory testing and to assure customers about the quality of our data.
White papers that outline our scientific and statistical standards and the criteria for the genetic associations included in our reports are available on our website at: https://www.23andme.com/for/scientists/#whitepapers

Opinion piece from George Church (Personal Genome Project, Harvard) on "Improving genome understanding".

From NATURE:

Improving genome understanding

The cost and accuracy of genome sequencing have improved dramatically. George Church asks why so few people are opting to inspect their genome.

09 October 2013 Corrected: 09 October 2013

Readers of Nature, we can assume, are bright and insatiably curious. So why have so few obtained and interpreted their own genome sequence? We should avoid being judgemental of people who practise genomic modesty or who choose not to act on genome information, but we should also ask if we are providing adequate and equal access to education about the benefits and risks of genome information.

Continued: http://www.nature.com/news/improving-genome-understanding-1.13907

FDA give 23andme 15 days to get into compliance or present a plan to do s

Today's big news is the FDA warning letter to 23andme giving them 15 days to either get into compliance or present a plan for compliance or cease selling the 23andme test as a "medical device" under (b)(4) of the regulations. See this link for the letter:
Warning Letter.

Earlier letters can be found by searching the site at this link: http://www.fda.gov/ICECI/EnforcementActions/WarningLetters/default.htm.

Big Y DNA test announced by FTDNA

FTDNA's David Mittelman has announced the Big Y DNA test at the FTDNA Surname Administrators Conference. The test will return results on 10,000,000 base-pairs and approximately 25,000 SNPs on the Y chromosome. It is being offered to current customers for $495, a $200 discount price for a limited time. Log into you FTDNA home page to see the offer.