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 history"

"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 casual genealogists.

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 history

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."

Researchers should:

• Define the objectives of your medical research project (your own "mission statement").
• Be able to clearly explain what you are doing, why you are asking questions.
• 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 generations."
• 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. Researchers must:

• 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 sentences.

• 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.

Acknowledgements

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. www.diamondgen.org. 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. ISBN 0-9639154-1/2/3.

• 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. ISBN 0-7779-0192-7.