The Origins of the Family History*
"The origins of the medical family history ultimately trace to genealogy. Genealogy is the study of a person’s identity as defined by ancestry and vital records. Typically, this includes an extended family tree defining biologic relationships and certificates documenting basic milestones in life such as birth, marriage and death. The death certificate often includes the cause of death and is essentially a piece of medical information. In addition, facts regarding education, occupation and medical health are often compiled. Taken together, this collection of information defines an individual as part of a larger biologic system, namely the family, and the family tree identifies among other things the patterns of disease present in a particular family. Therefore, genealogy defined many of the basic tenets of the medical family history.
The medical family history traces to antiquity. Hippocrates is generally credited with developing 'case histories' which included observations regarding the importance of family history in addition to clinical evaluation in the role of disease manifestation. His emphasis on prognosis, at a time when treatment was limited, was largely informed by the observation that disease type and severity often appeared to 'run in families'. This was the precursor to risk stratification. The modern medical family history is a record of illnesses and other pertinent health issues among family members. Conventional, albeit underused, applications of the family history include confirming medical diagnoses, identifying family members at risk for various conditions and calculating risk for developing a particular disease."
There are some in the reproductive medicine industry who think that the full genomic sequencing of a donor will remove the need for knowing the donor's complete and updated family medical history. Currently, donors fill out a medical history form when selling their gametes, but that is only one day in the life of that healthy young donor. Quite often the information is incomplete or inaccurate and is rarely updated over time. It's my understanding that genomic sequencing wouldn't have helped many of our DSR families who have reported children with diseases not easily identified by genomic sequencing.
Our research shows that:
Our research shows that:
- • More than three-quarters of surveyed donor-conceived people were searching for their donors to learn more about their medical history.
- • 84% of sperm donors have never been contacted by their clinic(s) for medical updates.
- • 23% of sperm donors felt that they or close family members had medical/genetic issues that would be important to share with families.
- • 97% of egg donors have never been contacted by their clinic(s) for medical updates.
- • 31% of egg donors felt they or close family members had medical/genetic issues that would be important to share with families.
From a Scientific American article, "How Useful Is Whole Genome Sequencing to Predict Disease?"
"Few diseases have strong enough genetic components to make sequencing a solid way to assess individual risk. ... Muin Khoury, director of the Office of Public Health Genomics at the U.S. Centers for Disease Control and Prevention, says, 'whole-genome sequencing is a great tool, but it's not ready for prime time—for a number of reasons.' Among those reasons, he notes, is that we have definitive genetic correlates for very few diseases—most of which are relatively rare in the general population. Most diseases are not inherently genetic in nature, and even if they seem to have some associated genetic hallmarks, those are not strong enough to be able to say for certain that a person will or will not get the disease at some point in his or her lifetime. ... Although the extra genetic information might not hurt, for an individual who is looking for educated estimations of disease risk, having strong family history and personal health and lifestyle information are some of the most valuable data points one can take to the doctor."
The Surgeon General's Family Health History Initiative tells us: "Your family health history can help your health care practitioner provide better care for you. It can help identify whether you have higher risk for some diseases. It can help your health care practitioner recommend actions for reducing your personal risk of disease. And it can help in looking for early warning signs of disease."
Misha Angrist is an Assistant Professor at Duke University's Institute for Genome Sciences & Policy, its Science & Society Initiative, and a Visiting Lecturer at its Sanford School of Public Policy. He holds an M.S. in genetic counseling and a Ph.D. in genetics:
"I guess I would say that sequencing might be necessary but it’s certainly not sufficient. IMHO we get into trouble when we fetishize WGS. For most of us—today at least—it’s unlikely to provide much of a boon to our health. But for donor-conceived people with anonymous biological fathers, one could argue that every bit of information has the potential to be useful. So while people should absolutely have access to their genomes, we shouldn’t pretend that genomes are a perfect proxy for a detailed family history."
Knowing your family's medical history can be most crucial when it comes to screenings and preventative care. The CDC and the National Human Genome Research Institute agree: "Tracing the illnesses suffered by your parents, grandparents and other blood relatives can help your doctor predict the disorders to which you may be at risk, and help you take action to keep you and your family healthy."
Donor Sibling Registry members have reported a wide variety of health and genetic issues, as well as clinics' refusal to update or share medical information. For example:
From a parent: "I was contacted by TSBC when my son was about 3, indicating 2 half-siblings had been diagnosed with Tourette’s, Tic disorder, and ASD. At the time, we were uncertain of my sons diagnosis but clearly there was something going on. Fast forward a couple of years and he was diagnosed with high functioning ASD, ADHD, and later bipolar disorder. My daughter had sensory processing disorder. We have been in contact with 3 half-siblings, two of which have mental health and neurological challenges. The one half-sibling male, one year older than my son, has the exact same diagnosis as my son."
From a parent: "My son has Asperger’s, as do 4 of the 8 children we have made contact with. Worse, our donor has a genetic defect that results in aortic aneurysms and dissection. Half of his 33 living children will inherit the same. My son did; he had open heart surgery at 17. I know it is a crapshoot when you rely on a stranger’s DNA, but there needs to be tighter regulation in the sperm banking industry."
From a parent: "3 of my twins 1/2 siblings tested positive for TS (tuberous sclerosis). This was a blessing and a curse. It brought previously unknown parents into our sibling group (or parents of siblings) but it also showe'd all of us the dark side of donor banks. Through growing and getting to know other families, we found out that there are a few kids that were diagnosed ASD, including my twins. The myriad of emotions I went through ... like "I did not sign up for this! This is WHY I went through a cryobank to get genetic history and know health issues" etc. It turned out that the donor was a mosiac carrier for TS. I am unsure about the rest but WITH the ASD diagnosis ... my twins also have a genetic deletion. So I am wondering if there are others and the sibling parents either just don't know or are not coming forward."
From a parent: "I was wondering if you could help with the following. Suppose a paren't has a donor child, diagnosed with autism spectrum disorder. Then, one would find out the identity of a sperm donor (when the donor child is still young), only to discover that the donor has autism too, and apparently in a more serious way than the child (meaning, it should have been rather obvious for the donor bank when the donor offered his services). Can you hold a donor bank [California Cryobank] liable? Or are they under any legal obligation to refuse potential donors with autism? What do you need as proof, in order to start a case?"
From a former sperm donor: "I received an email today from the birth mother of one of my offspring, a first! What a thrill! She chose me as a donor 25 or so years ago because I indicated that I would be open to contact. When her son was 16, he was diagnosed with MS. They learned there was a genetic link. She contacted the center and was told they were not allowed to contact me and would not give her any info. They even denied having a sperm donor program. She finally convinced them to send her the original information she had received to choose a donor. It was like a big secret they did not want her to know. I was never contacted by the clinic [Cryobiology], even though I had provided them with updated contact info over the years!"
From a former egg donor: "Some fellow egg donors in a ED group admitted to lying and/or purposefully withholding information on their applications so they could be accepted. One ED even told another potential ED how many days to be off her meds so she could clear any screening done. Its not just sperm donors who cheat to make a buck. There needs to be far more accountability."
From a parent: "It has been proven that the siblings have a 50 percent chance of inheriting a rare medical condition from the donor. The death rate is about 20% per year and first sign of the condition is death at sleep or rest. We are looking at the period of 1978-1985 as the period of the donation for the donor. Some of the period between 1980-1983 might have been in New York State. We have been unable to get further information from the University of Florida, Shands, the donor, or from the attending physician concerning more concrete information. We know of three siblings and each carry the gene. There are also two children by one of the siblings that carry the gene."
From an offspring: "I have a genetic blood disorder called Prothrombin Gene Mutation, thought to be passed down from my sperm donor."
From a parent: "I had genetic testing on my 2 boys that were conceived from the same donor. They inherited a mutation on a gene that is known to cause autism and Rhett syndrome. Both of my boys are autistic. One of their donor half-siblings who is also autistic just received genetic results and she also inherited the same mutation in the same exact spot in the genome as both my boys."
From an egg donor: "I was an egg donor over 20 years ago ... I called the office where I donated and let them know about my son having ADHD, anxety, bipolar, etc. so they could let the offsprings family know. I am assuming, because it was 100% confidential ... they really didn't seem like they were interested or were going to pass the information on."
From an egg donor: "I donated my eggs four different times at Genetics & IVF Institute in Fairfax, VA in the 90s/early 00s. Since then I discovered I carry a gene which means I'm at a much higher risk for getting several types of cancer. Since then I've tried to contact Genetics & IVF Institute so that they can relay this information to my offspring (they have a 50/50 chance of inheriting it) but they were not interested and it was obvious that they were not going to inform the families despite the fact that early screening could potentially save these childrens lives. I've recently turned 42 years old and I was just told this week that I most likely have ovarian cancer (this will be confirmed through pathology after surgery) and that I will need my ovary removed ASAP. I don't know if this is because of donating my eggs when I was younger or because of my family history. Its very upsetting either way."
From an egg donor: "I have been a member of the registry since 2004. I donated eggs in 97, 98, and 99. I am concerned about the children that may have resulted from those cycles. I have been diagnosed with Autosomal Dominant Polycystic Kidney Disease (ADPKD). I have 4 children, 2 have the disease. One does not and the youngest has not yet been tested. He is 15 and conceived from the cycle in 99. I kept 3 eggs and donated 20. I contacted the clinic immediately after I found out. They completely accepted the information but did not give me any real Indication that they would relay the information. I lost my mom in 2005 to aneurysm as a result of the disease. My niece had aneurysm surgery 4 years ago. She was the youngest diagnosed with serious complications. My sisters are both in renal failure waiting for transplants."
From a parent: "The only way we found about a serious genetic eye condition was because we had already found a large group of donor siblings and upon joining the group, the paren't of the child with the condition contacted me and told explained the condition and the importance of having my son screened no later than 3 years of age. It is a very rare but treatable condition. It turned out my son has this condition and had we not had that info my son would most likely ended up having serious vision problems due to it being caught too late. The bank we used had this information but it was not shared supposedly because only one donor sib at the time had it and there was only a 12.5% chance that other donor sibs would have it ... regardless, the info to have my son screened saved his vision and I will forever be grateful that I have the connection I have with the 12 other donor sib families!"
From an offspring: "I am donor conceived. I just found out who my bio father was. Sadly, he died 7 months ago from stage 4 renal cancer. He was only 49 years old. Also, there is some bad history of suicide and bipolar disorder in his family. I called the cryobank, Reproductive Resources in Metairie, LA. I told them his medical information and that they must immediately inform all other offspring of this information. They said they couldn't do that. What can I do? This could be a life or death situation. To withhold this information is unethical and criminal."
From an egg donor: "I am an ovum donor and I have Ehlers-Danlos Syndrome types 2 and 3, and my two children do as well. This was only discovered in my 30s. I so wish I could tell other offspring." [From the Mayo Clinic: "If you have the most common varieties of Ehlers-Danlos syndrome, there's a 50 percent chance that youll pass on the gene to each of your children."]
The Donor Sibling Registry's Medical Issues page contains a partial list of genetic/medical illnesses and disorders reported by donors and recipient families on the DSR. (This spreadsheet shows some of the listed diseases which are shown to be genetic.)
*The Family History: Reemergence of an Established Tool