Combining Genealogical and
Family Trait Genetic Research
"Mr. Diamond's work serves as a paradigm for the link between genealogy
research and the study of the evolution and spread of genetic diseases."
Dr. Ariella Oppenheim, Professor of Experimental Hematology, Hebrew University -
Hadassah Medical School.
"Genes and genealogy are different sides of a shared coin in personal
"Where is here? Who am I?" Geneticist Charles R. Scriver has posed
these questions in talks around the world. What he calls "molecular
heraldry" - what is found in the structure of the human DNA molecule - can be
used alongside genealogical sciences to answer those vital questions about personal
identity. Being aware that our ancestors determine who we are challenges us to
create a detailed picture both of them and of what they passed on to their progeny.
While archive doors may open wide for research with life-saving potential,
previously unknown family may not want to be documented, and close family may be
hesitant to cooperate. Combining genetic and genealogical research involves
different methods and special responsibilities. Defining this philosophy,
formulating the message, and honing sensitivities are unusual challenges for
The place of genetic/medical research
For some family historians, learning about generations of singers, artisans,
athletes, professionals or scholars is enough. Others want to document every
idiosyncrasy, each quirk, everything that has been passed down through the
generations. But today there is a growing recognition of the need to also
fill in the "medical" field in your genealogical computer program.
Recording one’s personal and family medical history is becoming the norm
rather than the exception and being able to provide ready access to this
information to an extended family can be of great and often unanticipated
benefit. This is particularly so in the case of recessive genes which may
or may not affect carriers but can result in devastating consequences for
future generations. Under such circumstances, genealogists have the obligation
to reach out and caution family members.
Fortunately, joint efforts of the medical and religious communities and
the ease of modern-day communications have made it possible to all but
eliminate Tay-Sachs and some other "Jewish" genetic diseases.
On the other hand, where Jewish families carry traits rarely seen in their
populations, there is no network of the usual vigilant counselors and doctors
carrying red flags or alerting them to the potential dangers. In my case,
finding family members that were either unaware they carried the
Beta-Thalassemia trait or had only learned the news late in life - usually
when undergoing exhaustive tests for pre-surgery or other medical problems -
has been the norm rather than the exception. Recognizing the potential
existence of hundreds of unsuspecting carriers in distant branches and that
this trait is virtually unknown in Ashkenazim is what drives my
genealogical/genetic research project.
Genealogists must be aware that genetic science is not yet able to
re-engineer disease-causing genes. That’s why genetic counseling and
pre-natal testing have played such an important part in raising awareness
and helping people understand their chances of being affected with genetic
diseases along with how to deal with this knowledge. Directing family
members to medical professionals who are trained to communicate the
appropriate information is the responsibility of every genealogist
charting his or her family’s medical history.
Researching your family’s medical/genetic historyGenealogists asking medical-related questions - whether of long-known
or recently discovered relatives - soon realize they may be treading on
delicate ground. Whether the information sought is general - i.e., just
to fill in the "cause-of-death" field in a genealogical software
program - or very specific, one often hears, "Why do you want to
know?" While the question "why" may be the first one heard,
the researcher’s response must also address "who," "when,
" "where" and "how," all the while being both
cognizant of the sensitive issues and prepared to allay the concerns of
the reluctant relative.
Why are you doing this? Why do you want to know?
Whether it is simply asking for names, dates and place - the staples of
genealogical research - or medical-related questions, people will ask,
"Why are you doing this?" There are many excellent articles
and hundreds of posts on JewishGen detailing reasons why individuals
become fascinated with family history research. Answering the question
"why?" when it involves medical matters has different connotations.
It has been said, "Ask the family gossip a medical question and the
answer may be never-ending or dead silence." Therefore, be
prepared to give a direct, carefully crafted answer - one that invites
cooperation as opposed to a "never bother me again."
- Define the objectives of your medical research project
(your own "mission statement").
- Be able to clearly explain what you are doing, why you are
- Understand and be able to communicate the basic facts of the medical
condition or genetic trait that is the basis for your reaching out.
Prepare a document that can be used to follow up verbal communications.
- Outline the benefits of your research to all members of your family
and their future generations. Use terms they understand - "life-saving"
or "preventing the inheritance of a genetic disease in future
- Detail what you expect to do with the information you gather and how it
would be communicated to family members or shared with the medical
community which might find the data of scientific value.
Who to talk to
Every member of each branch of a target family should be tapped
for relevant information. "The left hand doesn’t know what the
right hand is doing" may aptly describe what one nuclear family
knows and another does not about the circumstances of Zayda’s death.
When it involves a genetic trait, not every family member will be
comfortable sharing all the details or even mentioning it. Therefore,
researching your family’s medical history and making a genetic tree
requires talking to everyone, and frequently more than once.
- Focus on those branches and individuals who may be able to provide
the key leads for expanding the search.
- Never assume anything! People often don’t know or cannot remember
their exact medical condition. Check and double-check. Ask for permission
to talk to family doctors or anyone who has been involved with the health
of the family. This is particularly relevant when tracking genetic traits
that can be a potential disaster for future generations as not everyone
will recognize the implications of the trait they carry.
- Enlist others in the family, particularly doctors and other medical
professionals who understand and support the aims of the research.
Ask them to join your team.
When to start; when to push
We are told time and again, "Interview the living! The documents will
be here forever." The two words genealogists dislike are "if only."
If only I had listened to Bubba when she talked about her youth…if only I
had written down all those endless stories my father used to tell about his
grandparents…if only mother hadn’t thrown out Zayda’s old address book
or diary or ________ (fill in the blank!). It is no different for the family
historian who seeks to record his family’s medical history. Remember when
Mom or Dad came home from visiting Uncle Sam at the hospital and went on
and on about his strange condition. I wasn’t listening, were you?
Talk to the older generations now!
Even if a death certificate states "arterial sclerosis," you
should be asking questions: "Was this a heart attack? When did Zayda first
get sick? Was it his first heart attack? Did he die suddenly or was he in
the hospital?" Ask about and record the circumstances.
How to find the answers
Face-to-face meetings are always the best. They instill confidence.
The expression on your face, the sound of your voice show you really care.
But genealogists know that researching family history entails more than a
drive around town. Our ancestors settled all over the world and our modern
families have spread with the winds. It is true that the advent of email
and low-cost long-distance rates have significantly simplified the search
process and facilitated communications. But unless we are skilled, the
printed word can seem unfeeling when asking sensitive medical questions.
Because your genuine concern and interest may not come through, the phone
call is indeed "the next best thing to being there."
The first goal must be to gain the confidence of the person you are calling,
often someone who may never have heard of you or your branch. Even the words
to be left on an answering machine should be carefully considered in advance.
Establishing credibility with someone you are calling or writing for the
first time is a must.
When phone calls are impractical (for reasons of cost, language barriers, etc.),
the reaching-out letter must be clear, concise and effective; having it co-signed
by other family members and/or a doctor is recommended.
A short guide to interviewing for medical/genetic family history
- Explain who you are, where you live, and how you got his or her name.
- Convey why you have an interest in the family’s history - in a few short
- Describe your exact relationship or what you think the relationship may be.
Articulate it in terms that a non-genealogist understands. "Third cousins,
once removed" is likely to bring silence. But, "My grandfather and
your great-grandmother were sister and brother" is far easier to grasp.
- Share your family history: Tell the story of your branch and show a general
interest in theirs, where they live and how they got there. Offer to send a
"family tree" but avoid providing details as to whether it will be
a graphic tree, a descendant’s list or other report - that gets confusing to
non-genealogists. Share a vignette about a common ancestor or living relative,
one that will make them proud or provide a laugh.
- Avoid the turn-off: While most people are flattered to be asked non-leading
questions about their history and unique accomplishments, it could be dangerous
to rush into discussions about college degrees or well-kept family secrets about
mental illnesses or suicides. Allow the conversation to evolve. Avoid putting
on pressure…don’t try to get all the information in one phone conversation.
- Define your role as the family historian: If you are the first person to
call about the family, then - in their eyes - you become a special person to
be befriended or feared. You will be the family historian by
default. People want to be cast in a favorable light. Listen, take note...
ask questions... take more notes!
- Elaborate about yourself as an individual: Describe where your family history
studies have taken you, whether it be to ancestral towns, the Family History Library
in Salt Lake City or visits with branches you just discovered. This deep interest
and sincere effort will be recognized. If articles about your research have appeared
in magazines and newspapers, send copies. If you have a web site, suggest they look
at it and offer the URL; but refrain from put-downs if they are not computerized!
- Carefully posing the medical/genetic question: How you say it and what
you say should be tailored to your own comfort level and the nature of the reaction.
One example might be: "You know, because of my study of our family, I
hear as many questions as I ask. It seems everyone is curious about one thing or
another and I now seem to be the one with some answers. Health preoccupies all our
older relatives and that has taught me a lot. For instance, were you aware that
Grandma and almost all her siblings had heart disease? That made me curious and
I found that their father’s death certificate showed heart disease too. I guess
that’s a signal for us. What’s the heart situation in your family?"
The question I usually pose is: "Has there been any sign of mild chronic
anemia in your family?" By way of follow-up, the comment is: "Well, we
seem to be rather special. We are one of only thirteen Ashkenazic families carrying
a genetic trait called Beta-Thalassemia or Mediterranean anemia." Often, by
the time I get that out of my mouth, the questions come rapidly: "What does
that mean?" or "Is it dangerous?" or "How do you know if you
are a carrier?" That’s when the calming words and clear statements are needed.
My reply is: "It has no effect on carriers - I know because I am one - but
there is a significance to future generations…" The discussion goes on from
there, and I quickly point out that I am not a medical person but merely someone
with a deep interest in the medical and genetic history of our family.
How research is different
There are several features of genealogical research with a medical/genetic
focus that sets it apart from typical family history projects.
- Potential for networking: There are more receptive ears…everywhere, both
within and outside the genealogical community, particularly when it involves
potential life-saving situations.
- Response of the genealogical community: Genealogists are probably the most
generous individuals one can find in any walk of life. When genetics are involved,
the response is magnified both in quantity and quality.
- Reaction of archival resources: Archivists, whether at home or abroad,
can vary from being highly cooperative to passionately supportive. Invite
the archivist to be part of your research team!
- Support from the non-genealogical community: Newspapers want stories; doctors
and scientists welcome the opportunity to share their expertise or learn from unique
studies; universities seek projects which address the need of students to learn
while at the same time making meaningful contributions to the outside world.
The Jewish Genetic Disease mailing list is a forum for networking with both medical
professionals and those at risk or suffering from genetic diseases. Go to: http://www.gaucherdisease.org/list.htm
- The credibility factor: Because it involves the health of both living family and
future generations, your family history project should rightly give your research
an enhanced level of credibility. This is not automatic. It takes time, effort and
patience to bring all the pieces together.
Documentation, Confidentiality, Perpetuity
Whatever the reasons for charting your family’s medical and genetic history,
confidentiality must be respected; permission is necessary to share information.
In the U.S., where it often seems medical insurers are looking over everyone’s
shoulder, there is a particular need for prudence. (I maintain a separate
confidential family tree of carriers of the trait.) Finally, decide to whom you
will pass on your valuable research and under what conditions.
To launch, persevere and have success with a genealogical/genetic project,
one is fortunate to have the inspiration, guidance and moral support of the
medical/scientific world. My stimulus came from Dr. Robert Desnick of Mount Sinai
at the 1992 Jewish Genealogical Conference in New York. He introduced me to
Dr. Charles Scriver of McGill University. This led to the Beta-Thalassemia
research project and the paper published with Scriver and Dr. Ariella Oppenheim
et al in Human Mutation, January 1997. They, their associates and many
others have been unstinting in their support, contributions and encouragement.
From a presentation by Stanley M. Diamond at the 19th Annual Conference on
Jewish Genealogy, New York, August 11, 1999. Reprinted with permission of the author.
Stanley M. Diamond,
MBA Harvard, is founding president of the
Jewish Genealogical Society
of Montreal, and Project Co-ordinator of Jewish Records
Indexing - Poland. Diamond has a particular interest in genealogical research
related to genetics that ultimately led to the creation of JRI - Poland.
He is the genealogist for the international team doing research related to
his family’s novel mutation of the beta-thalassemia genetic trait and is
co-author of a scientific paper related to the project, "Probable
Identity by Descent and Discovery of Familial Relationships by Means of a
Rare Beta-Thalassemia Haplotype," Human Mutation 9:86-87 (1997).
As part of his research, Diamond is documenting the rare incidence of the
beta-thalassemia trait in Ashkenazic Jewish families of the Diaspora.
Diamond was the founder and Chairman of the Intalite International Group of
Companies from which he retired in 1986.
Recommended for Further Reading
Nelson-Anderson, Danette L., R.N., B.S.N., and Waters, Cynthia V.,
Genetic Connections: A Guide to Documenting Your Individual and
Family Health History, Sonters Publishing, P.O. Box 109,
Washington, MO 63090-0109, 1995. 301 pages.
Willard, Jim and Terry, with Wilson, Jane, Ancestors:
A Beginner's Guide to Family History and Genealogy,
Houghton Mifflin, Boston, 1997. (Chapter 8: Your Medical Heritage,
pages 89-102.) ISBN 0-395-85410-5.
Bennet, Robin L. Bennet, M.S., C.G.C, The Practical Guide to
the Genetic Family History, John Wiley and Sons, Inc., 605 Third Ave.,
New York, NY. 356 pages.
McNabb, Luanne, B.Sc., B.Sc.N; Curtis, Elizaeth B.J., B.Sc., M.A.
and Barclay-Rowley, B.A., U.E., Family Health Trees, Toronto:
The Ontario Genealogical Society, 1995, Reprinted June 1997.