Ubani lo sosayensi wezakhi zofuzo? Ake sixoxe ngalokhu ngokuningiliziwe!

Wake wezwa ngososayensi wezakhi zofuzo? Ungase uzibuze, "Ubani lo?" "Benzani?" Ungakhathazeki, namuhla sizokhuluma ngokuthi obani laba sosayensi wezakhi zofuzo nokuthi babaluleke kangakanani empilweni yethu ngendlela elula neqondakala kalula. Kufana nokukhuluma nomngane.

Ubani lo sosayensi wezakhi zofuzo?

Kalula nje, isazi sezakhi zofuzo ngudokotela ogxile ebuhlotsheni obuphakathi kwezakhi zofuzo zethu nempilo yethu. Cabanga ngale ndlela: izakhi zofuzo zethu ziwuchungechunge lwemiyalelo emincane emizimbeni yethu. Lezi zakhi zofuzo azinqumi nje kuphela ukuphakama nombala wethu, kodwa futhi nokuthambekela kwethu ezifweni ezithile.

Laba sosayensi bezakhi zofuzo, ikakhulukazi ososayensi bezakhi zofuzo bezokwelapha, basiza ekutholeni nasekuphatheni izifo zezakhi zofuzo ezithinta abantu babo bonke ubudala, kusukela ekukhulelweni kuya phambili. Abanye ososayensi bezakhi zofuzo benza ucwaningo ngezifo zezakhi zofuzo futhi bathole okusha. Abanye bahilelekile emsebenzini wokuphatha noma ekufundiseni abanye odokotela nabafundi.

Kungani ufuna ukuhlangana nososayensi wezakhi zofuzo?

Kunezizathu eziningi zokuthi kungani ungafuna ukubona isazi sezakhi zofuzo. Ake sibheke ezinye zazo.

Uma kutholakale ukuthi unesifo sofuzo...

Udokotela wakho angakuthumela kuchwepheshe wezakhi zofuzo uma esola ukuthi unesifo sofuzo. Lokhu kusho ukuthi kukhona izinguquko, noma izinguquko, ezakhiweni zakho zofuzo. Lezi zinguquko zofuzo zingaba khona lapho uzalwa noma zikhule kamuva ekuphileni.

Isazi sezakhi zofuzo singakusiza ukuthi ubone izici zofuzo ezibangela lesi simo, sichaze ukuthi singathinta kanjani izingane zakho noma amanye amalungu omndeni, futhi sinikeze izincomo eqenjini lakho lezokwelapha ukuze likusize uhlale uphilile ngangokunokwenzeka ngalesi simo sofuzo.

Uma othile emndenini wakho enesifo esidluliselwa ngofuzo...

Cabanga ukuthi othile emndenini wakho unesifo sofuzo, njengomdlavuza. Udokotela wakho angakuthumela kusosayensi wezakhi zofuzo. Isazi wezakhi zofuzo singahlola ingozi yakho yokuthola lesi sifo futhi sikusize wakhe uhlelo lokubhekana naso. Isibonelo, bangase batuse ukuhlolwa ukuze kusize ekutholeni izimpawu zomdlavuza kusenesikhathi. Bangase futhi basikisele ukuhlolwa kwezakhi zofuzo ukuze ufunde kabanzi ngengozi yakho.

Uma ingane yakho inesimo sofuzo...

Ososayensi bezakhi zofuzo belapha abantu abadala nezingane. Abanye bangochwepheshe ezinganeni. Uma ingane yakho itholakale inesici sokuzalwa noma isimo esifana ne-autism, kungase kudingeke ukuthi ubonane nososayensi wezakhi zofuzo. Usosayensi wezakhi zofuzo angakusiza wena nomndeni wakho niqonde ukuxilongwa kwengane yakho, izinketho zokwelapha, kanye nokubikezela kwesifo.

Okubalulekile: Kuvamile ukuthi abazali bashaqeke lapho bezwa ukuthi ingane yabo inesifo sofuzo. Kodwa ngosizo lwesazi sezakhi zofuzo, ungasiqonda lesi simo futhi unikeze ingane yakho ukunakekelwa okungcono kakhulu.

Uma uhlela ukuqala umndeni, noma ukhulelwe...

Uma uhlela umndeni, udokotela wakho wokubelethisa noma umbelethisi angakuthumela kudokotela wezakhi zofuzo. Lokhu kubaluleke kakhulu uma unesifo sofuzo noma uneminyaka engaphezu kwengu-35. Udokotela wezakhi zofuzo angakusiza ekunqumeni ingozi yokuthi ingane yakho ithole isifo sofuzo noma izalwe inesimo esifana ne-Down syndrome.

Ungase futhi uhlangane nochwepheshe wezakhi zofuzo ngesikhathi sokukhulelwa kwakho ukuze nixoxe ngemiphumela yokuhlolwa kokukhulelwa noma ezinye izinto ezikhathazayo.

Uma unesifo esingavamile...

Izazi zezakhi zofuzo zihlonza futhi ziphathe izimo zofuzo ezivamile nezingavamile. Ezinye izimo azivamile kakhulu. Kulezo zimo, isazi sezakhi zofuzo singaba ukuphela komuntu osazi kahle lesi sifo futhi ongakusiza.

Ubani isazi sezakhi zofuzo zezokwelapha?

Igama elithi "Clinical geneticist" libhekisela kusosayensi wezakhi zofuzo obona iziguli. Baneziqu zobudokotela (``(MD - Doctor of Medicine)`` noma ``(DO - Doctor of Osteopathic Medicine)``).

Iningi lezazi zezakhi zofuzo libhekwa njengezazi zezakhi zofuzo zezokwelapha. Kodwa-ke, ezinye izazi zezakhi zofuzo zisebenza kakhulu emalabhorethri, hhayi ekunakekelweni kweziguli. Bangase babe neziqu zobudokotela, iziqu zobudokotela (PhD - Doctor of Philosophy), noma kokubili. Ngokuvamile babizwa ngokuthi izazi zezakhi zofuzo noma izazi zezakhi zofuzo zezokwelapha, hhayi izazi zezakhi zofuzo zezokwelapha.

Basebenza kuphi ososayensi bezakhi zofuzo?

Iningi lezazi zezakhi zofuzo lisebenza ezibhedlela ezinkulu nasezikhungweni zezokwelapha. Abanye basebenza emitholampilo yangasese noma yamaqembu. Inani elincane kakhulu lisebenza kuphela emalabhorethri ebhizinisi.

Ososayensi bezakhi zofuzo bavame ukuhlangana nawe mathupha, kodwa abaningi banikeza nama-aphoyintimenti e-inthanethi (i-telehealth). Lokhu kubaluleke kakhulu kubantu abasezindaweni lapho kunezazi zezakhi zofuzo ezimbalwa noma kungekho nhlobo.

Ngenxa yokuthi iningi lezazi zezakhi zofuzo lisebenza emadolobheni amakhulu noma eduze kwawo, abantu abaningi abanakho ukufinyelela okulula kuchwepheshe wezakhi zofuzo. Uma ufuna ukubona isazi sezakhi zofuzo kodwa kungekho muntu endaweni yakini, buza udokotela wakho ngakho.

Yini eyenziwa yisazi sezakhi zofuzo?

Isonto elijwayelekile lomsebenzi wesazi sezakhi zofuzo lingafaka:

• Kuhlolwa umzimba ngendlela eningiliziwe.
• Ukukhuluma nabantu ngomlando wemindeni yabo kanye nezimpawu zabo.
• Ukuhlolwa kwezakhi zofuzo kuyahlelwa futhi kuyaqondiswa.
• Imiphumela yokuhlolwa ixoxwa nabantu ngabanye kanye nemindeni yabo.
• Uma umuntu kufanele athole ukuxilongwa okunzima, simsekela lowo muntu nomndeni wakhe ngomusa nangozwela.
• Sihlanganisa ukwelashwa nabanye abahlinzeki bezempilo.
• Incoma ukwelashwa noma amasu okuphatha isimo sezokwelapha.
• Ngivuselela ulwazi lwami ngokufunda izihloko ezisanda kushicilelwa mayelana nezakhi zofuzo zezokwelapha.
• Ngenza kokubili umsebenzi wokuphatha kanye nokufundisa.
• Ukwenza ucwaningo nokubhala izihloko ezizoshicilelwa.

Akubona bonke ososayensi bezakhi zofuzo ababona iziguli ngqo. Abanye basebenza ngasese emalabhorethri, njengalokhu:

• Kuhlolwa izifo zofuzo.
• Ukuhlaziya imiphumela yokuhlolwa.
• Ukudala imibiko enemininingwane yabahlinzeki bezempilo.

Uyini umehluko phakathi kwesazi sezakhi zofuzo kanye nomeluleki wezakhi zofuzo?

Izazi zezakhi zofuzo kanye nabeluleki bezakhi zofuzo bobabili bangochwepheshe bezakhi zofuzo, kodwa kukhona umehluko ekuqeqeshweni kwabo:

• Ososayensi bezakhi zofuzo bangodokotela. Baya esikoleni sezokwelapha futhi bagxile kwezakhi zofuzo.
• Abeluleki bezakhi zofuzo bangochwepheshe abaqeqeshiwe. Bathola iziqu ze-master kwezeluleko zezakhi zofuzo. Baphinde babhale ukuhlolwa ukuze babe yi-Certified Genetic Counselor (CGC®). Nakuba bengenza imisebenzi eminingi ebalwe ngenhla, abakwazi ukwenza izivivinyo zomzimba noma ukuthuthukisa izinhlelo zokuphatha ezokwelapha ezingakashicilelwa.

Izazi zezakhi zofuzo kanye nabeluleki bezakhi zofuzo basebenza njengeqembu. La maqembu angafaka abahlengikazi bezakhi zofuzo, izazi zokudla, kanye nochwepheshe be-pharmacogenomics. Izazi zezakhi zofuzo zisebenza nodokotela bokunakekelwa okuyisisekelo (ama-PCP) kanye nabanye ochwepheshe, njengodokotela bezinzwa noma odokotela bezifo zomdlavuza, ukuze baxilonge futhi baphathe izifo.

Uba kanjani isazi sezakhi zofuzo?

Ukuze ube yisazi sezakhi zofuzo, udinga ukuthola imfundo ephakeme – noma uye esikoleni sezokwelapha uthole iziqu zobudokotela (`(MD)` noma `(DO)`), noma uye esikoleni sokufunda iziqu bese uthola iziqu zobudokotela (`(PhD)`). Nazi izinyathelo eziyisisekelo ezilandelwa iningi lezazi zezakhi zofuzo:

• Okokuqala, udinga ukuthola iziqu ze-bachelor's.
• Udinga ukuya esikoleni sezokwelapha bese uthola iziqu, kungaba ``(MD)`` noma ``(DO)```.
• Kumelwe ugcwalise ifomu lokuba yisakhamuzi sezokwelapha (isibonelo, kwezokwelapha zangaphakathi noma kwezokwelapha izingane), bese uqedela i-fellowship kwezokwelapha izakhi zofuzo noma ukuhlala okuhlangene, njenge-pediatrics/genetics.
• Ukuze uthole isitifiketi sebhodi esikhungweni esifana ne-American Board of Medical Genetics and Genomics (ABMGG), umuntu kumele abhale ukuhlolwa. (ESri Lanka, umuntu kumele athole iziqu ezifana ne-MD (Genetics) esikhungweni esifanele se-postgraduate futhi abhalise njengodokotela ochwepheshe.)

Uma ukhetha ukwenza ucwaningo noma ukusebenza elabhorethri kunokubona iziguli, ungakhetha ukuphishekela "i-PhD" esikhundleni seziqu zobudokotela. Abanye abantu baphishekela iziqu ezimbili (``MD/PhD''). Indlela eqondile oyikhethayo izoncika ezintweni ozithandayo kanye nemigomo yakho yomsebenzi. Kungumqondo omuhle ukuvakashela izikhungo zemfundo ozicabangelayo bese ukhuluma noprofesa nabafundi lapho ukuze ufunde kabanzi ngezinketho zakho.

Ngubani isazi sezakhi zofuzo zezingane?

Isazi sezakhi zofuzo zezingane ngumuntu oxilonga futhi elapha izifo zofuzo ezinganeni ezincane nasezinganeni ezincane. Baphinde banikeze imfundo nokusekela imindeni. Isibonelo:

• Ngizochaza isimo sengane yakho ngendlela ongayiqonda.
• Imiphumela yokuhlolwa izochazwa kuwe.
• Lokhu kuchaza ukuthi kungenzeka ukuthi lesi simo sofuzo singathinta amanye amalungu omndeni noma ukukhulelwa kwesikhathi esizayo.

Kungase kudingeke usebenze nodokotela wezofuzo wezingane uma ingane yakho izalwa inesinye salezi zimo:

• Isifo senhliziyo esizalwa naso (`(Isifo senhliziyo esizalwa naso)`).
• Isifo sofuzo esithinta ama-chromosome engane, njenge-Down syndrome.
• Isifo esizuzwe njengefa, njenge-cystic fibrosis noma isifo se-sickle cell.

Ososayensi bezakhi zofuzo zezingane baqeda ukuqeqeshwa kokuhlala kokubili kwezakhi zofuzo zezingane kanye nezezokwelapha. Bavame ukuba nesitifiketi sebhodi kuzo zombili lezi zinsimu.

Okokugcina, into ebaluleke kakhulu

Uma uqala ukuhlangana nososayensi wezakhi zofuzo, ungase uzizwe ukhathazekile futhi wesaba. Lokho kuyinto evamile. Kodwa khumbula, ososayensi wezakhi zofuzo bahlangana nabantu ngabanye kanye nemindeni ngaso sonke isikhathi. Bafuna ngempela ukukusiza uqonde ukuthi kwenzekani emzimbeni wakho, noma emzimbeni womuntu omthandayo. Bangase babe nezindaba ezinhle kuwe, noma bangase babe nezindaba ezinzima ongazizwa. Kodwa-ke, ososayensi wezakhi zofuzo bakulungele ukukusekela kuzo zonke izinyathelo zendlela ngolwazi, izinsiza kanye nozwela.

Ngakho-ke, ngithemba ukuthi usunomqondo omuhle wokuthi ungubani isazi sezakhi zofuzo nokuthi benzani. Ngithemba ukuthi lolu lwazi luzowusizo!

Izakhi zofuzo, isazi sezakhi zofuzo, izifo zezakhi zofuzo, ufuzo, ukuhlolwa kwezakhi zofuzo, ukubonisana nodokotela, impilo