Talk:Genetic testing

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Some text in this article was originally taken from (public domain)

Error of reference[edit]

"the analysis of RNA, chromosomes (DNA), proteins, and certain metabolites in order to detect heritable disease-related genotypes, mutations, phenotypes, or karyotypes for clinical purposes " (Holtzman & Watson 1997)." is a definition taken from and in no way related to Holtzman & Watson 1997 "Predictive genetic testing: from basic research to clinical practice." change it.

External Link[edit]

The National Office of Public Health Genomics lists valuable resources for the evaluation of genetic tests. Lid6 17:36, 15 September 2006 (UTC)

A class[edit]

This was no way an A class page so I've downgraded it to B. There is only one disease listed as testable for a start(not including recent vandalism) this is ridiculous, there must be loads of diseases you can test for.Sam Hayes 22:10, 21 September 2006 (UTC)

Found someSam Hayes

Countless diseases can be tested for:

- Huntington's
- Cystic Fibrosis
- Sickle Cell Anemia (or is it Anemea?)
- Down's Syndrome

Medical Procedure[edit]

"a parent will usually only receive the result if it is positive"

Does this mean the test is positive for a disease or positive meaning good?-- 03:12, 8 December 2006 (UTC)

Genetic testing is "the analysis of human DNA, RNA, chromosomes, proteins, and certain metabolites in order to detect heritable disease-related genotypes, mutations, phenotypes, or karyotypes for clinical purposes " (Holtzman & Watson 1997). It can provide information about a person's genes and chromosomes throughout life.

Types of testing 
  Newborn screening: Newborn screening is used just after birth to identify genetic disorder that can be treated early in life.
  Diagnostic testing: Diagnostic testing is used to diagnose or rule out a specific genetic or chromosomal condition.
  Carrier testing: Carrier testing is used to identify people who carry one copy of a gene mutation that, when present in two copies, causes a genetic disorder.
  Prenatal testing: Prenatal testing is used to detect changes in a fetus's genes or chromosomes before birth
  Predictive and presymptomatic testing: Predictive and presymptomatic types of testing are used to detect gene mutations associated with disorders that appear after birth, often later in life.
  Forensic testing: Forensic testing uses DNA sequences to identify an individual for legal purposes.
 Medical procedure   
  Genetic testing is often done as part of a genetic consultation. Once a person decides to proceed with genetic testing, specialist can order the test after obtaining informed consent.

Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue. For example, a medical procedure called a buccal smear uses a small brush or cotton swab to collect a sample of cells from the inside surface of the cheek. The sample is sent to a laboratory where technicians look for specific changes in chromosomes, DNA, orThe results of genetic tests are not always straightforward, which often makes them challenging to interpret and explain. When interpreting test results, healthcare professionals consider a person’s medical history, family history, and the type of genetic test that was done.

Interpreting results

   A positive test result means that the laboratory found a change in a particular gene, chromosome, or protein of interest. Depending on the purpose of the test, this result may confirm a diagnosis, indicate that a person is a carrier of a particular genetic mutation, identify an increased risk of developing a disease (such as cancer) in the future, proteins, depending on the suspected disorder.
   A negative test result means that the laboratory did not find a dangerous copy of the gene, chromosome, or protein under consideration. This result can indicate that a person is not affected by a particular disorder, is not a carrier of a specific genetic mutation, or does not have an increased risk of developing a certain disease.
   Genetic testing has potential benefits whether the results are positive or negative for a gene mutation. Test results can provide a sense of relief from uncertainty and help people make informed decisions about managing their health care. For example, a negative result can eliminate the need for unnecessary checkups and screening tests in some cases. A positive result can direct a person toward available prevention, monitoring, and treatment options. Some test results can also help people make decisions about having children. Newborn screening can identify genetic disorders early in life so treatment can be started as early as possible.

  In vitro fertilization(IVF) is a technique in which egg cells are fertilised by sperm outside the woman's womb, in vitro. IVF is a major treatment in infertility when other methods of assisted reproductive technology have failed. The process involves hormonally controlling the ovulatory process, removing ova (eggs) from the woman's ovaries and letting sperm fertilise them in a fluid medium. The fertilised egg (zygote) is then transferred to the patient's uterus with the intent to establish a successful pregnancy.


  Initially IVF was developed to overcome infertility due to problems of the fallopian tube, but it turned out that it was successful in many other infertility situations as well. 

Human Cloning

  Although genes are recognized as influencing behavior and cognition, "genetically identical" does not mean altogether identical; identical twins, despite being natural human clones with identical DNA, are separate people, with separate experiences and not altogether overlapping personalities. The relationship between an "original" and a clone is rather like that between identical twins raised apart; they share all the same DNA, but little of the same environment.  —Preceding unsigned comment added by (talk) 07:38, August 25, 2007 (UTC) 

Procedures and coverage[edit]

No word is said on how the laboratory actually looks for modification in the DNA... shouldn't the words PCR and FISH appear somewhere in the article ? XApple (talk) 18:41, 25 November 2007 (UTC)

Here's a start for, targeted mutation nanalysis, linkage analysis and prenatal testing which should be covered in the article[1],

[2],[3].LeeVJ (talk) 23:11, 11 March 2009 (UTC)

This article is not neutral, it is highly critical of genetic testing[edit]

  • Any WikiPedia entry should be neutral towards the issue discussed. Both sides should have equal space.
  • What diseases are tested for? (talk) —Preceding undated comment added 20:59, 27 November 2009 (UTC).

Possible copyvio[edit]

See here: —Preceding unsigned comment added by (talk) 06:00, 2 February 2011 (UTC)

Thanks for the report. It does look like this is a copyvio (sometimes it's not—the other website has copied from Wikipedia). However in this case the material was dumped into the article on 24 February 2010 in these two edits by Angelliaaaa (talk · contribs) who has made no other edits. I do not have time to deal with it at the moment, but someone should confirm and work out what to do. It might be argued that material from is reusable here (I do not know), but if that were true, and if we wanted to use it, we must acknowledge the usage. Johnuniq (talk) 06:26, 2 February 2011 (UTC)
I have just rewritten the problematic text to paraphrase rather than be a simple copy-and-paste. Most of it was redundant to material elsewhere in the article, which I was in the process of cleaning up anyway. -- Beland (talk) 23:10, 3 November 2013 (UTC)

Material to be merged elsewhere[edit]

When I merged in Gene Diagnostics, the "Specific diseases" section in this article got a lot of material that doesn't particularly need to be in this article. I would suggest moving the specifics for each disease to the linked article for that disease, and just leaving the list of links here. I expect there will be many hundreds of genetic diseases with tests when we finish documenting. -- Beland (talk) 23:52, 3 November 2013 (UTC)

DNA test diagnosis[edit]

Is the following news item (or related) worth mentioning in the article - or not?

On June 4, 2014, researchers announced that, for the first time, the cause of an illness was diagnosed with a DNA test.< ref name="NYT-20140604">Zimmer, Carl (June 4, 2014). "In a First, Test of DNA Finds Root of Illness". New York Times. Retrieved June 5, 2014. </ref>< ref name="NEJM-20140604">Wilson, Michael R. M.D.; et al. (June 4, 2014). "Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing". New England Journal of Medicine. doi:10.1056/NEJMoa1401268. Retrieved June 5, 2014.  </ref>

In any case - Enjoy! :) Drbogdan (talk) 13:21, 5 June 2014 (UTC)

NO It is blatantly false. maybe the first time for nextgen whole genome sequencing used to diagnose something on the fly like this. DNA tests have been used clinically for years - the blurb as written is embarassingly wrong. I don't have time to read and digest the source right now and check others - even the NY Times can be wrong on "first" things sometimes. Jytdog (talk) 13:25, 5 June 2014 (UTC)
@Jytdog - Thanks for your reply - no problem whatsoever - maybe this can be all sorted out at some better opportunity - in any case - Thanks again - and Enjoy! :) Drbogdan (talk) 13:42, 5 June 2014 (UTC)

External links modified[edit]

Hello fellow Wikipedians,

I have just added archive links to one external link on Genetic testing. Please take a moment to review my edit. If necessary, add {{cbignore}} after the link to keep me from modifying it. Alternatively, you can add {{nobots|deny=InternetArchiveBot}} to keep me off the page altogether. I made the following changes:

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Question? Archived sources still need to be checked

Cheers. —cyberbot IITalk to my owner:Online 04:42, 18 October 2015 (UTC)

Assessment comment[edit]

The comment(s) below were originally left at Talk:Genetic testing/Comments, and are posted here for posterity. Following several discussions in past years, these subpages are now deprecated. The comments may be irrelevant or outdated; if so, please feel free to remove this section.

Rated "top" due to medical and public interest/media coverage. - tameeria 23:53, 18 February 2007 (UTC)

Last edited at 23:53, 18 February 2007 (UTC). Substituted at 15:55, 29 April 2016 (UTC)