Fergus Bescoby discusses family medical histories and genomic medicine.
A family history consists of information about disorders from which the direct blood relatives of a person have suffered.
A complete record includes information from three generations of relatives, including children, brothers and sisters, parents, aunts and uncles, nieces and nephews, grandparents, and cousins.
The age at diagnosis, and the age and cause of death of the deceased family members is also important to record.
Families have many factors in common and many things influence our overall health and likelihood of developing a disease. Sometimes, it's not clear what causes a disease.
Many diseases are thought to be caused by a combination of genetic, lifestyle, and environmental factors.
The significance of any particular factor (or combination of factors) varies from person to person.
These factors can give clues to medical conditions that may run in a family. By noticing patterns of disorders among relatives, doctors can determine whether an individual, other family members, or future generations may be at an increased risk of developing a particular condition.
A family medical history can identify people with a greater propensity of developing common disorders, such as heart disease, high blood pressure, stroke, certain cancers, and diabetes.
As already mentioned, these complex disorders are influenced by a combination of genetic factors, environmental conditions, and lifestyle choices.
A family history can also provide information about the risk of more rare conditions caused by mutations in a single gene, such as cystic fibrosis and sickle cell anaemia.
While a family medical history provides information about the risk of specific health concerns, having relatives with a medical condition does not mean that an individual will definitely develop that condition.
Similarly a person with no family history of a disorder may still be at risk of developing that disorder.
Being aware of your family medical history allows you to take steps to reduce the additional risk that may be associated with the specific medical condition.
For people at an increased risk of certain cancers, doctors may recommend more frequent screening (such as mammography or colonoscopy) starting at an earlier age.
Doctors may also encourage regular checkups or testing for people with a medical condition that runs in their family.
Additionally, lifestyle changes such as adopting a healthier diet, getting regular exercise, and stopping smoking help many people lower their risk of developing heart disease and other common illnesses.
The easiest way to get information about family medical history is to talk to relatives about their health to find out if they have had any medical problems, and if so when they occurred.
A family gathering could be a good time to discuss these issues. Additionally, obtaining medical records and other documents (such as obituaries and death certificates) can help complete a family medical history.
Family histories may be imprecise for various reasons, including the following:
• Adoption, fostering, illegitimacy and adultery
• Lack of contact between close relatives
• Uncertainty about the relative's exact diagnosis
Generally, for protection insurance purposes, only the first degree relatives (parents and siblings) are taken into account at underwriting, where the family member was diagnosed with a certain condition before the age of 60 or 65.
First degree relatives - biological father, mother, siblings (brother or sister) - share one half of the subject's genes
Second degree relatives - grandparents, grandchildren, aunts, uncles, nephews, nieces, half siblings - share one quarter of the subject's genes
Third degree relatives - first cousins - share one eighth of the subject's genes
Health problems that may run in a family
Health problems that can run in a family include:
• Alzheimer's disease/dementia
• Blood clots
• Certain cancers, including breast and ovarian, familial adenomatous polyposis (bowel), and hereditary non-polyposis colorectal cancer
• Heart disease
• High cholesterol
• High blood pressure
Most of us have heard of genetics, the study of the way particular features or diseases are inherited through genes passed down from one generation to the next.
But the more we learn about genes, the more we understand that the old idea of having a single gene for this or a single gene for that, which determines our fate is not - except in the case of unusual inherited diseases - a good way of describing the complexity of genes.
In fact, groups of genes work together and their activity is influenced by a huge variety of environmental and other factors. It is now known that the DNA between genes is also very important.
We have a complete set of genes in every healthy cell in our body. One set of all these genes, (plus the DNA between the genes), is called a genome.
Genomics is the study of the whole genome and how it works, but has also come to have a broader meaning to include the way that the genome is interpreted and the technologies that have been developed to help do this.
Genetic tests have been developed for thousands of diseases. Most tests look at single genes and are used to diagnose rare genetic disorders, such as Fragile X Syndrome and Duchenne Muscular Dystrophy.
In addition, some genetic tests look at rare inherited mutations of otherwise protective genes, such as BRCA1 and BRCA2, which are responsible for some hereditary breast and ovarian cancers.
However, a growing number of tests are being developed to look at multiple genes that may increase or decrease a person's risk of common diseases, such as cancer or diabetes.
Such tests and other applications of genomic technologies have the potential to help prevent common disease and improve the health of individuals and populations.
For example, predictive genetic tests may be used to help determine the risk of developing common diseases, and pharmacogenetic tests may be used to help identify genetic variations that can influence a person's response to medicines.
There is much we still need to learn about how effective these new tests are, and the best way to use them to improve health.
The 100,000 Genomes Project
This project will sequence 100,000 genomes from around 70,000 people.
Participants are NHS patients with a rare disease, plus their families, and patients with cancer.
The aim is to create a new genomic medicine service for the NHS - transforming the way people are cared for.
Patients may be given a diagnosis where there wasn't one before. In time, there is the potential for new and more effective treatments.
The project will also enable new medical research. Combining genomic sequence data with medical records is a ground-breaking resource.
Researchers will study how best to use genomics in healthcare and how best to interpret the data to help patients. The causes, diagnosis and treatment of disease will also be investigated.
The ABI Genetics code of practice
In 1997, following developments in genetic science, the ABI produced a Genetic Testing Code of Practice.
This was done due to the concerns raised by various sources, including the government, general public and the medical profession, over the possible implications genetic testing may have for the life insurance industry.
The Code of Practice was drawn up to regulate the use of genetic test results by life insurance companies who are members of the ABI. Full details are available on the ABI website.
Family history of disease has been shown to help predict risk in many common diseases, including heart disease, breast and ovarian cancer, colo-rectal cancer and diabetes.
Family history is generally taken to mean information about the health of the client's first or second degree relatives, particularly details of death or diagnosis of a certain disease before a certain age.
It must be remembered that most diseases are not single-gene diseases in which there is a known and clear pattern of inheritance.
Instead, the majority of common diseases are multifactoral which involves complex interactions between genes and environmental factors.
The typical insurance application form will ask questions about:
Family history of multifactorial disorders which have been recognised as having strong inherited components, for example diabetes, cardiovascular disease and certain cancers
Family history of monogenic disorders with autosomal dominant or other strong patterns of inheritance, for example Huntington's disease, polycystic kidney disease, motor neuron disease and familial polyposis of the colon.
Final acceptance terms will depend on the number of family members who have been diagnosed with or died from the specified conditions and the age at which this happened.
Fergus Bescoby is underwriting development manager at VitalityLife