1. Presented to HSV Genealogical Society May 4, 2017 Barbara Pinkney
DNA : Bits & Pieces
Presented to HSV Genealogical Society
May 4, 2017
Barbara Pinkney

2. Outline Basic Review Medical Genetics Q&A
Types of Tests
Testing Companies
Using Reports
Widening the genealogical search
Medical Genetics
Discover through death certificates, obituaries, family stories/interviews, or DNA analysis
Learn from videos/ webinars
Forms / websites
Pros & Cons
Q&A
Brief Survey for future topics

3. Basic Review 4 Types of DNA Testing
Autosomal (used by both male & female)
Mitachondrial (female - maternal lines only)
Y-test (men – paternal lines only)
3 main companies for genealogy
Family Tree
Ancestry
23andMe

4. Basic Review
Medical genetics are only available through 23andMe which has recent FDA approval to test for 10 hereditary conditions:
Parkinsons
Early onset primary dystonia
Late onset Alzheimers
Celiac disease
Alpha-1 antitrypsin deficiency (lung/liver disorder)
Factor XI (blood clotting) deficiency
Gaucher disease type 1 (organ/tissue)
G6PD (red blood cell disorder)
Hereditary hemochromatosis
Hereditary thrombophelia (blood clotting)

5. 23and Me also provides reports on Wellness, Traits &
Carrier Status

7. Basic Review DNA results usually reported 3 ways
Ethnicity patterns
DNA Matches for potential relationships
Raw data file that can be uploaded to other sites (such as ) for maximizing matches to people who tested with other companies)
Matches are NOT determined by family trees but by analysis of DNA “bits and pieces” to find commonalities with others who have tested

8. Basic Review
Unless you are an IDENTICAL TWIN, your DNA will not be a 100% match to anyone else, including your own family members.
We each get a random group of DNA bits & pieces (50% from each parent). Each of us are unique!!
This explains why some transplant patients have to find a match outside of their own family.

9. Basic Review
Possible matches to other tested people are based on the percent of specific bits & pieces that match.
Percentage of match is expressed in confidence levels and degree of relationship - usually in terms of “cousin”
These connections are for various degrees of relationships. I need to understand what “cousin” means

10. OR “So HOW are we related??
“Cousins” Defined OR
“So HOW are we related??

11. What is a “degree” cousin? (1st, 2nd, 3rd, etc)
What is a “cousin, removed” ?
Where do they fit on my family tree?
How can this help me understand DNA matches?

12. same # generations to a common ancestor.
To begin, find the first SHARED ANCESTOR and “count” back how many generations of separation
Grandparent
Parent
YOU
Your Aunt/Uncle
1st Cousin
Descendants in the SAME GENERATION are 1st Cousins if they both go back the
same # generations to a common ancestor.
# Generations = # Steps Between the Original Shared Ancestor and your generation

13. What about the brothers/sisters of your ancestors and their descendants?
1st Cousin
Great Grandparent
Grandparent
Grand Aunt/Uncle
Aunt/Uncle
Parent
YOU
Same generation
2nd Cousin
Add a number to the cousin in YOUR SAME GENERATION for each additional step you have to count back to the common ancestor .

14. Great-Great Grandparent
You can use this method for as many generations back as needed for a common shared ancestor
Great-Great Grandparent
1st Cousin
Aunt/Uncle
Great Grandparent
Grandparent
Parent
YOU
Grand Aunt/Uncle
Same generation
Great Aunt / Uncle
1st Cousin
2nd Cousin ?
2nd Cousin
Add a number to the cousin in YOUR SAME GENERATION for each generation you have to count back to the common ancestor .

15. Tip:
Find the first common/shared ancestor
Count how many generations of grandchildren this
ancestor would have in order to reach YOUR
generation.
The cousin in your generation will be 1 more than
the number of “greats” in your ancestor
Example:
The common shared ancestor is your 4th great
grandparent. That “cousin” in YOUR generation is
your 5th cousin.
Conversely: If you have a DNA match to someone who is your 4th cousin, then your shared ancestor is your 3rd great grandparent.

16. IMPORTANT TO REMEMBER: Age does not equal generation!
Ancestor siblings may have been born years apart if their parents married young and stayed healthy – or had more than one spouse. You could have a 1st cousin in YOUR generation who is older than your parents.

17. What is a “cousin, removed?”
(and no, this is not a relative who has become the family outcast!)
A cousin of any degree will always be in the same generation as you.
As soon as you start adding generations (children or grandchildren) of a cousin, then you add the term “removed” (ie same degree of cousin, but who come one or more generations afterwards).

18. Grandparent
Parent
YOU
Your Aunt/Uncle
1st Cousin
1st Cousin
1x removed
1st Cousin,
2x removed

19. Your 1st Cousin, 1x removed
How are my children related to my
cousins/cousins removed?
Grandparent
Parent
YOU
Your Aunt/Uncle
1st Cousin
Your
Brother or Sister
Your 1st Cousin, 1x removed
Your
Child
1st cousin
And is also YOUR CHILD’s 2nd cousin – this generation shares a common ancestor 2 generations back

20. “Cousin, _x removed” can also be from an OLDER generation
3rd Great Grandparent
2nd Great Grandparent
2nd Great Grand Aunt/Uncle
Great Grandparent
Grandparent
Parent
You
1st cousin
GGP 1st cousin, 1x removed
GP 2nd cousin
Your GGP’s 1st cousin, 2x removed
GP 2nd cousin, 1x removed
Parent’s 3rd cousin
Your G-GP’s 1st cousin, 3x removed
GP’s 2nd cousin, 2x removed
Parent’s 3rd cousin, 1x removed
Your 4th cousin
siblings
Same generation, different reference/starting point

21. IN SUMMARY - A common Generation is the basis
“Degree” cousins are based on the number of generations between a specific generation and the closest common/shared ANCESTOR
“Cousin, Removed” is a term used to describe relationships to a child or grandchild (etc) of a degree cousin’s DESCENDANTS
DNA relationships are usually given in terms of degree cousins. Use the hints to quickly associate that person with an ancestor in your own tree.

22. This “take it with you” chart was provided courtesy of HSVGS member Beverly Salisbury

23. Basic Review
Surnames can be identified if at least one party has posted a family tree online.
If BOTH parties have posted online family trees, surname MATCHES can be identified

24. Basic Review How I Use My DNA Report
Search DNA report for strong or good matches
Calculate the most likely generation for “shared ancestor” – how many surnames are in your own tree for that generation? Are you missing any?
For each match, check to see if they have a family tree available. If so, search surname list for matching names in the selected generation.

25. Basic Review
If some surnames match, check their tree to see if their ancestor may be your ancestor or one their siblings.
If NO surnames match and I am missing some on my own tree, one of theirs could lead me to my missing line(s).
For trees posted online, check for attached documentation. If none, do searches for the names of interest.

26. Basic Review
If no family tree is posted, contact person about the specific surname(s) you might share for that generation.
Upload raw DNA file to FREE website at for widest “net” of matches.
If looking for an ancestor of a specific ethnicity and/or location, check the ethnicity of your strongest DNA matches for possible commonalities (ex – Native American) for further exploration.

27. Basic Review Ancestry.com DNA tests will provide results in terms of
Raw data file
Ethnicity estimate (very broad ethnic groupings)
DNA “Matches” – could be in the thousands

28. Basic Review Ancestry.com is also “beta testing”
“DNA Circles” – limited to people who have family trees posted on the website
Relationships to potential “degree cousins”
Results can include common surnames (MAY NOT BE IN YOUR DIRECT LINE)
(NEW) “Genetic Communities
Looks at shared DNA and does a complex and detailed analysis on LOCATIONS (migratory patterns) and groups the results as shared communities. Using family trees as final step can provides a list of most common surnames in the locations

29. EXAMPLE – Raw data file
65, 536 ROWS of data!!

30. EXAMPLE

31. EXAMPLE – Ethnicity Estimate

33. Uses chromosomes, not family trees, to find DNA matches
EXAMPLE – DNA MATCHES
Uses chromosomes, not family trees, to find DNA matches

35. The more DNA SEGMENTS shared, the STRONGER the probability
of a shared ancestor (strong, good, fair, weak)
The more CENTIMORGANS shared, the CLOSER the
relationship (how many generations separate you from the shared
ancestor)

36. I share 42 DNA segments with boncrayon = a STRONG DNA match
We share 1080 centimorgans= much CLOSER relationship

37. Ancestry Academy (under “Extras” in your Ancestry.com Main Menu

38. VIEW MATCH FROM “M.C.” s TREE

39. EXAMPLE – DNA CIRCLES

42. EXAMPLE – Genetic Communities
To Date: 6 European regions, 3 North American Regions,
3 South American regions, 2 Asian regions
More than 300 available so far (including subgroups)

43. Each group has subgroups
Based on locations

44. Each group and subgroup includes an historical OVERVIEW
and details for different time periods. This helps you understand
regions, events, migration patterns, backgrounds for your ancestors

46. Medical Genetics Medical family history can be discovered in many ways
Death certificates
Obituaries
Family stories
Family interviews
DNA analysis
To be useful, pertinent information should be recorded/mapped and shared with other family members

47. Maintain a perspective in your search
Death certificates often give a “generic” cause of death (heart failure, thrombosis, kidney failure, respiratory failure, liver failure, etc) that could be the result of normal aging or ordinary disease process
Older generations did not have modern diagnostic tools so cause of death was sometimes a “best guess” by coroner or physician
Records may describe patient as “senile” – this is a very generic description that could describe a spectrum from the fog of old age or illness to Alzheimers.
KEY: Disease-related deaths that occur years earlier than normally expected.

48. This is also where medical genetic testing can be useful
Many deaths are not from causes considered hereditary (pneumonia, accident, flu, sepsis, etc)
Watch for specifics on death certificates for diseases that “run in the family” (Bladder cancer, breast cancer, colon cancer, aortic dissection, etc )
This is also where medical genetic testing can be useful

49. Learn More on YouTube Videos, Webinars, or Google Searches

53. GOOGLE various terms or phrases for different results

56. http://freepages. rootsweb. ancestry

57. Medical Genetics Forms & Websites
There are a variety of ways to record and track medical genealogy information gleaned from records.
Forms provided by various organizations
Online forms
Excel documents
Word Tables
Specialized pedigree charts

59.
Note that none of these most common “family-line” diseases are in the list of DNA medical genealogy tests

60. PDF form can be downloaded to your own computer
PDF form can be downloaded to your own computer

61. Online data entry – can be saved/updated/printed out but stays online
Online data entry – can be saved/updated/printed out but stays online

64. FamilySearch.org http://www.kumc.edu/gec/pedigree.html
Below are other Websites that will provide information about creating a family health and genetic database.

65. 30 page PDF document you can download and save to your computer
30 page PDF document you can download and save to your computer

66. Medical Genetics - Pros
Results can provide an opportunity to find/confirm or negate the possibility of significantly worrisome inherited conditions.
Results can provide a starting point for conversations between patient and physician(s) about need for preventive care and/or further testing.
Results / trends can be shared with other family members so that they can be aware and discuss need for preventive care with their own physician(s).

67. Medical Genetics - CONS
Medical testing represents an additional cost (many reports from 23andMe are included in the base price).
Genetic testing ordered by physicians is expensive and some types may not be covered by health insurance.
Some people prefer NOT to know.
Unreasonable panic can be generated if results are not understood – presence of a disease gene does not guarantee the disease will occur.

68. Medical Genetics - CONS
Although DNA results are protected by privacy laws in terms of medical insurance, LIFE INSURANCE companies can ask for test results and deny some/all coverage based on test results (National Public Radio)
shots/2013/01/17/ /some- types-of-insurance-can-discriminate- based-on-genes
Or GOOGLE a phrase like
“can an insurance company require me to share DNA results” for other articles

69. Medical Genetics - CONS
There has been a recent movement to make a future amendment to the replacement national healthcare plan that will allow employers to require employees to take a medical DNA test – if refused, employee costs can be 50% higher
let-employers-demand-workers-genetic-test-results
Or GOOGLE a phrase like
“can an employer require me to share DNA results” for other articles

70. Future in DNA?
Article that appeared earlier this week discussed the ethics of a developing science that can create artificial “bits and pieces” of DNA that can be inserted in place of defective DNA segments.
What will this mean to future genealogists? Perhaps what we record in our generation will clarify the future picture.

71. Q & A