SHOULD I TEST MY GENES? The Price of Life, BBC2, 9pm, 5th July

Last year, after my mother died of cancer that she seemed to have inherited from her mother I set out to discover if I also had this familial cancer gene, or any other gene that might impact on my health.

To understand why I might want to know I met other patients who have already discovered they have bad genes. Julie’s mother and sister both have cancer, and she is facing the terrible choice of having adouble mastectomy so that she can prevent herself from going the sameway.

One of the most extraordinary benefits of the brave new world ofgenetics is called Pre-implantation Genetic Diagnosis (PGD). Tracy and Thomas are in the midst of the process, screening embryos in order toprevent a gene mistake from being passed down the generations. Will the wonder of science deliver a healthy baby?

A few hundred couples go through PGD every year on the NHS? But there are millions of people in Britain who inherit diseased genes: is the NHS serving then? I reveal that if the NHS tracked through the families of patients with a disease called FamilialHypocholesterolemia then the nation could save thousands of people from suffering, and money which could be diverted to other patients inneed.

In the end, this is a film about whether or not I have any inherited genes? Morever, even if I do can the secrets of our blood foretell our destiny, and even if they could would it be worth knowing?

The BBC Webpage about it is here.

Follow me on Twitter: @adam_wishart

Join the Discussion: #testmygenes 

Add comments below. 

Comments

[Joy Shorten]

Hi there, I had a double mastectomy and oopherectomy 3 weeks ago today after finding out I have the BRCA2 gene mutation. My grandma and sister both died of breast cancer. I can hardly believe I am typing this and that those two sentences I have written apply to me. The bid for survival is overwhelming and I'm doing all I can to reach a very old age, so that I can be with my family for as long as possible.

Best wishes,
Joy

[Rachel]

Check out www.cancergeneticsstorybank.co.uk for lots of stories about the cancer genetics journey others have made

[Frances Reid]

Very interesting programme highlighting the issues around genetic testing in families, but a shame you haven't highlighted the link between breast and ovarian cancer. For more information visit http://www.targetovariancancer.org.uk/page.asp?section=80&sectionTitle=When+ovarian+cancer+runs+in+families

[Stephen Dawson]

Explicitly-cited within No 10 Petition Homeland-Security Database [HomelandSecDB] is the opportunity to remotely-scan secure-encrypted database-servers for 'elevated-risk' in real-time; kids DIE most EVERY-WEEK from 'sudden-death' [typically the apparently-healthy]:
http://petitions.number10.gov.uk/HomelandSecDB/

Better-directing NHS-resources easily-afforded linking Municipal-Database:
http://petitions.number10.gov.uk/MunicipalDB/

GMP & other police-authorities 'cash-starved'; punters [aka the 'innocent'] have the 'option' to-pay for THEIR DNA, living-fingerprints... held-in-perpetuity. USA Visa-application 'expedited' through joint counter-terrorism services.

[Vikki Hughes]

I also have a strong link to the program having had prophylactic breast and ovarian surgery. A double mastectomy with reconstruction 7 years ago before I was even tested for the gene and ovary and fallopian tube removal December last year when I found out I was positive for BRCA2. My bresst surgeon was Hisham Hamed, the surgeon featured in the programme tonight.

I have 2 children and will urge them both to get tested when they are old enough.My mum died when she was 39 and I have a sister in remission. both from breast cancer.

It's years of extensive medical research that has enabled many of us to make very personal decisions that may have actually saved not only our lives but also the lives of our children and their children

An excellent hour of television

Vikki

[Stace]

Dear Adam,
I am really sorry to have to write this to you. First let me say that I do understand that you only have a limited amount of time to get your story across. But I felt that the part about the genetic testing process and referral process was totally unrealistic. Having been through this process myself, I am actually having my results at Barts on Thursday. I felt that your programme gave the impression that any member of the general population can walk in and get tested which is not the case. I dread to think about the GP's that will be over run with requests for genetic testing. I am actually shocked that your auntie had her results via post!!! Was this a confirmation letter of an appointment?? Had she already been given her results in person? Was the opening f the letter set up for TV?? I was left feeling that this "genetic search" was more about you dealing with losing your mum than informing people about genetic testing. The genetic test you had, was it matched against the "general population"?? As I dont understand how you could come up with a result. I feel that the Doctor, in her response to you, probably feels the same way. This whole process is a very tough journey that doesnt just involve the person to be tested but their wider family. It has time almost pulled my family apart due to the stressful nature. The programme made it look like it was a walk in walk out process. Regards.

[StevieBeadmill]

I understand the seriousness of this subject on personal and individual levels so hesitate to trivialise. How would insurance companies that access medical records for life insurance/critical illness respond to negative tests?

[Marina]

You made a good documentary but I did have one problem with it. You kept mentioning "cancer genes" and "having a cancer gene" but we all have the same genes. It is the makeup of those genes which makes us different. It is having a BRCA1 or 2 gene mutation which potentially increases susceptibility to breast cancer. I realise the programme was aimed at the general population but there is a difference between having a gene and having a mutation in that gene. Having said that, thank you for making a documentary about genetics.

[Richard Windle]

The programme missed the fact that 23andMe is more than just a genetic testing service. The test is entirely free for people with Parkinson's Disease (like me). Participants are asked to complete an extensive set of questionnaires covering family and medical history, lifestyle and attitude questions. The objective is to build up a large database and then to look for correlations between the questionnaire responses and the genetic data. My main motivation for taking part was to contribute to this research.

[Ian Logan]

Adam

This review was written for your blog and for the bulletin board
GENEALOGY-DNA-request@rootsweb.com
were there is a lively discussion about
the results of D-I-Y DNA testing, such as done by '23andMe'and 'FTDNA'

-

This was a fascinating programme - beautifully written, directed
and produced by a British documentary maker, Adam Wishart.
There was lots of science, but everything was made understandable
for the ordinary viewer.

Adam Wishart, the author, director and producer, concentrated
his investigations on small number of topics. And, naturally some
of these topics were covered somewhat better than others.

The main investigation was into the high incidence of cancer
in his family, especially of breast cancer. This subject was chosen
as Adam's mother had recently died from the disease.

The programme discussed how it is now possible to test the BRCA genes,
for breast cancer. There was a moving interview with a lady who
is about to undergo a double mastectomy in view of her very poor family
history. This theme was handled very sensitively and successfully.

There was also a powerful interview with a young woman whose
mother is seriously ill with the advanced stages of Huntington's Chorea.
And, this woman had decided not to be tested for her susceptibility
to the disease.

There followed short pieces of film about Cystic Fibrosis, Familial
Hypercholesterolaemia and Sickle Cell disease. Included were interviews
with children and adults suffering from each of these conditions;
and it was discussed how the carrier state of each condition could
be identified, and therefore, how each condition could be prevented.

There was also a long item about the testing of embryos before
re-implantation. The filming for this item was particularly impressive,
showing the harvesting of eggs, and the removal for testing of a single
cell from the embryo. The programme featured the successful outcome
of a pregnancy in a woman who had previously lost twins because of
a translocation in one of her husband's chromosomes.

Being a British programme there was some discussion about whether,
or not, The National Health Service was keeping up with the
developments in Genetics; and indeed could it afford to do so.

From the point of view of the followers of this list, the item that was
handled in the poorest manner was the part that showed Adam
performing a Do-It-Yourself DNA test. Near the start of the programme
he was shown collecting a saliva sample and sending it off to '23and Me'.
And, towards the end of the programme the results were announced.

However, it appears that Adam Wishart didn't know exactly what he had
done and therefore did not really understand what the results meant.

He was told that he had an increased risk of 'Atrial Fibrillation'; but he did
not appear to appreciate that this particular result was based on just
a few of the 500,000 tests had been conducted on his DNA sample.

'23andMe' are at present offering advice on about 200 conditions and
for those conditions due to single mutation in the genome, Adam should
have been pleased that he did have any of them.

He also might not have appreciated that his results are now on a database
and as new discoveries are made in the future he can be notified of new
developments.

Unfortunately, the Do-It-Yourself DNA testing was shown in a
bad light and no reference was made to the progress being made
in this field.

But let me say once again, I did find this a very good documentary
and it deserves a wide audience.
--------

[Derek McLintock BSc, MB, BS, FRCOG]

Dear Adam,

Thank you for putting the question of whether the NHS should offer genetic testing into the public domain. Having worked all my professional life in the service as an Obstetrician and Gynaecologist, I found many aspects of your programme particularly apposite. The comments above (particularly that by Stace) are also very revealing. There are great problems with interpretation . . . most of our politicians and public have no understanding of statistics . . How should one react to positive or negative results? Are we prepared to pay the extra tax that countrywide screening initiatives would require? Would false positive or false negative results (which ALL screening tests will produce) be a cause to sue the NHS? And so on. . . These need public discussion.
I have tried to explain something about Ante-Natal screening on my website www.gynaeuk.com

Yours

Derek McLintock FRCOG
P.S. I wish Dr Mackie had contributed more.

[Jean Wagstaffe]

Dear Adam,
Thankyou for your programme.I am carrying a Robertsonian Translocation which means that I have a one in four chance of having a baby with Downs Syndrome.I have 5 healthy children and we did not find out about the translocation until our first grandchild was born in 1984.My daughter was given hormone treatment to retain the pregnancy,and she was not genetically tested until after he was born,The genie is out of the lamp,and we must have a duty of care to all those who are given this information,which in turn leads to tough choices.All three daughters were found to have the same translocation as me,my two sons were not carriers.Guys were helpful and steered us through.These three daughters all have a daughter that is not a carrier,which is a huge relief to me.In my case ignorance was bliss.I did have two miscarriages,but that is another story,with knowledge comes responsibility,thankyou for airing this very difficult subject.I hope my story will encourage others,
Yours Jean Wagstaffe

[mac makeup]

Bad luck often brings good luck